| geneid | 51412 |
|---|---|
| ensemblid | ENSG00000077080.10 |
| hgncid | 160 |
| symbol | ACTL6B |
| name | actin like 6B |
| refseq_nuc | NM_016188.5 |
| refseq_prot | NP_057272.1 |
| ensembl_nuc | ENST00000160382.10 |
| ensembl_prot | ENSP00000160382.5 |
| mane_status | MANE Select |
| chr | chr7 |
| start | 100643097 |
| end | 100656448 |
| strand | - |
| ver | v1.2 |
| region | chr7:100643097-100656448 |
| region5000 | chr7:100638097-100661448 |
| regionname0 | ACTL6B_chr7_100643097_100656448 |
| regionname5000 | ACTL6B_chr7_100638097_100661448 |
| chr:pos | ref | alt | af | annotation | impact | samples | AHAPIDS | ACHAPIDS | ACTHAPIDS | ACTGHAPIDS | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
ahapid | alen | total | AFR | AMR | EAS | EUR | SAS | aseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACTL6B | 1/1 | a0001 | 426 | 359 | 88 | 66 | 147 | 12 | 44 | subcellular location copy fasta | chr7 | 100638097 | 100661448 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
chapid | clen | total | AFR | AMR | EAS | EUR | SAS | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACTL6B | 1/1 | c0001 | 1281 | 348 | 87 | 65 | 139 | 12 | 43 | copy fasta | chr7 | 100638097 | 100661448 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
achapid | total | AFR | AMR | EAS | EUR | SAS | clen | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACTL6B | 1/1 | a0001c0001 | 348 | 87 | 65 | 139 | 12 | 43 | 1281 | copy fasta | chr7 | 100638097 | 100661448 |
Click to load Haplotype QTL data...
| pos | S. Strand |
E# Exon Number |
max | median | min | diff | type | haplotypeid | max_hap_list | min_hap_list | symbol | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 100656330 | - | 1 | -0.9780 | -0.9611 | -0.9503 | 0.0277 | acceptor | a0001c0001 | NA18999.hp2 | HG03688.hp1 | ACTL6B | chr7 | 100638097 | 100661448 |
| 100655803 | - | 2 | -0.7625 | -0.7394 | -0.6364 | 0.1261 | acceptor | a0001c0001 | HG01070.hp1 | HG02027.hp1 | ACTL6B | chr7 | 100638097 | 100661448 |
| 100655879 | - | 2 | 0.7561 | 0.7216 | 0.6761 | 0.0801 | donor | a0001c0001 | HG02451.hp2 | NA18975.hp2 | ACTL6B | chr7 | 100638097 | 100661448 |
| 100655421 | - | 3 | -0.9253 | -0.9186 | -0.9036 | 0.0216 | acceptor | a0001c0001 | HG02922.hp2 | NA18949.hp2 | ACTL6B | chr7 | 100638097 | 100661448 |
| 100655586 | - | 3 | 0.9745 | 0.9720 | 0.9582 | 0.0163 | donor | a0001c0001 | NA18999.hp2 | HG02738.hp2 | ACTL6B | chr7 | 100638097 | 100661448 |
| 100655019 | - | 4 | -0.9982 | -0.9979 | -0.9976 | 0.0006 | acceptor | a0001c0001 | NA19030.hp1 | HG03491.hp1 | ACTL6B | chr7 | 100638097 | 100661448 |
| 100655119 | - | 4 | 0.9932 | 0.9921 | 0.9908 | 0.0024 | donor | a0001c0001 | NA19060.hp2 | HG03209.hp2 | ACTL6B | chr7 | 100638097 | 100661448 |
| 100650038 | - | 5 | -0.9813 | -0.9802 | -0.9561 | 0.0252 | acceptor | a0001c0001 | HG01884.hp1 | NA19012.hp2 | ACTL6B | chr7 | 100638097 | 100661448 |
| 100650135 | - | 5 | 0.9943 | 0.9931 | 0.9765 | 0.0178 | donor | a0001c0001 | NA19012.hp2 | NA19240.hp2 | ACTL6B | chr7 | 100638097 | 100661448 |
| 100648729 | - | 6 | -0.7194 | -0.7122 | -0.6661 | 0.0533 | acceptor | a0001c0001 | NA19090.hp2 | HG01884.hp1 | ACTL6B | chr7 | 100638097 | 100661448 |
| 100648823 | - | 6 | 0.8777 | 0.8499 | 0.8043 | 0.0734 | donor | a0001c0001 | NA19090.hp2 | HG01884.hp1 | ACTL6B | chr7 | 100638097 | 100661448 |
| 100648556 | - | 7 | -0.9956 | -0.9955 | -0.9941 | 0.0015 | acceptor | a0001c0001 | HG03669.hp2 | HG01884.hp1 | ACTL6B | chr7 | 100638097 | 100661448 |
| 100648662 | - | 7 | 0.9972 | 0.9969 | 0.9966 | 0.0006 | donor | a0001c0001 | NA19011.hp2 NA21309.hp1 |
HG02886.hp2 | ACTL6B | chr7 | 100638097 | 100661448 |
| 100647444 | - | 8 | -0.9611 | -0.9499 | -0.9427 | 0.0184 | acceptor | a0001c0001 | NA18975.hp1 | HG01884.hp1 | ACTL6B | chr7 | 100638097 | 100661448 |
| 100647533 | - | 8 | 0.9857 | 0.9821 | 0.9809 | 0.0048 | donor | a0001c0001 | NA18975.hp1 | HG01884.hp1 | ACTL6B | chr7 | 100638097 | 100661448 |
| 100647223 | - | 9 | -0.9934 | -0.9925 | -0.9905 | 0.0028 | acceptor | a0001c0001 | HG01346.hp1 | HG02074.hp2 HG02080.hp1 NA18939.hp2 |
ACTL6B | chr7 | 100638097 | 100661448 |
| 100647284 | - | 9 | 0.9981 | 0.9979 | 0.9974 | 0.0007 | donor | a0001c0001 | HG04204.hp1 | HG02896.hp2 | ACTL6B | chr7 | 100638097 | 100661448 |
| 100646971 | - | 10 | -0.9938 | -0.9937 | -0.9936 | 0.0003 | acceptor | a0001c0001 | NA20129.hp1 | HG02896.hp2 | ACTL6B | chr7 | 100638097 | 100661448 |
| 100647085 | - | 10 | 0.6114 | 0.6061 | 0.5924 | 0.0190 | donor | a0001c0001 | HG02055.hp1 | HG01346.hp1 | ACTL6B | chr7 | 100638097 | 100661448 |
| 100646751 | - | 11 | -0.9694 | -0.9681 | -0.9679 | 0.0015 | acceptor | a0001c0001 | HG03098.hp2 | HG01433.hp1 | ACTL6B | chr7 | 100638097 | 100661448 |
| 100646831 | - | 11 | 0.9917 | 0.9911 | 0.9907 | 0.0010 | donor | a0001c0001 | NA18960.hp1 NA19009.hp2 NA19011.hp1 |
HG02735.hp1 | ACTL6B | chr7 | 100638097 | 100661448 |
| 100646551 | - | 12 | -0.9859 | -0.9848 | -0.9804 | 0.0055 | acceptor | a0001c0001 | NA18944.hp2 | HG02896.hp2 | ACTL6B | chr7 | 100638097 | 100661448 |
| 100646646 | - | 12 | 0.9972 | 0.9972 | 0.9969 | 0.0003 | donor | a0001c0001 | HG00099.hp1 HG00408.hp1 HG00609.hp1 HG00673.hp2 HG00738.hp1 others(48): Show |
HG02735.hp1 | ACTL6B | chr7 | 100638097 | 100661448 |
| 100646249 | - | 13 | -0.8142 | -0.8050 | -0.7116 | 0.1026 | acceptor | a0001c0001 | HG02735.hp1 | HG02896.hp2 | ACTL6B | chr7 | 100638097 | 100661448 |
| 100646335 | - | 13 | 0.7841 | 0.7769 | 0.5672 | 0.2169 | donor | a0001c0001 | HG03579.hp2 | HG02896.hp2 | ACTL6B | chr7 | 100638097 | 100661448 |
| 100643326 | - | 14 | 0.3642 | 0.3381 | 0.2204 | 0.1438 | donor | a0001c0001 | HG02451.hp1 HG02818.hp1 |
NA18967.hp2 | ACTL6B | chr7 | 100638097 | 100661448 |
| pos | annotationhgvs_chgvs_p | clinvarid | clnsig | geneinfo | mc | clndisdb | strand strand
|
ahapid ahapid_count
|
chapid chapid count
|
thapid thapid_count
|
ghapid ghapid_count
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
impact | chr | ref | alt | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 100643148:splice 100643148:variant goto | c.*98T>A | 1188858 | Benign | ACTL6B:51412 | SO:0001619 non-coding_transcript_variant,SO:0001624 3_prime_UTR_variant |
MedGen:C3661900|MONDO:MONDO:0032768 MedGen:C5193113 OMIM:618468|MONDO:MONDO:0032770 MedGen:C5193115 OMIM:618470 |
- | 2 | 6 | 9 | 233 | a0001a0002 | a0001c0001a0001c0002a0001c0004a0001c0005a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0006a0001c0002t0001others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(228): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(322): Show |
MODIFIER | chr7 | A | T | TogoVar |
| 100640712:splice 100640712:variant goto | c.*2534G>A | 358300 | Benign/Likely_benign | TFR2:7036 | SO:0001819 synonymous_variant |
.|MONDO:MONDO:0006507 MedGen:C0392514 OMIM:PS235200|MONDO:MONDO:0011417 MedGen:C1858664 OMIM:604250 others(1): Show |
- | 1 | 1 | 1 | 2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0127 | HG00438.hp2 NA19090.hp1 |
MODIFIER | chr7 | C | T | TogoVar |
| 100641038:splice 100641038:variant goto | c.*2208C>T | 21373 | Conflicting_classifications_of_pathogenicity | TFR2:7036 | SO:0001583 missense_variant |
MONDO:MONDO:0006507 MedGen:C0392514 OMIM:PS235200|MONDO:MONDO:0011417 MedGen:C1858664 OMIM:604250 others(1): Show |
- | 1 | 1 | 1 | 1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | NA19004.hp1 | MODIFIER | chr7 | G | A | TogoVar |
| 100641127:splice 100641127:variant goto | c.*2119G>A | 215505 | Benign | TFR2:7036 | SO:0001819 synonymous_variant |
MONDO:MONDO:0006507 MedGen:C0392514 OMIM:PS235200|MedGen:C3661900|MONDO:MONDO:0011417 MedGen:C1858664 OMIM:604250 others(1): Show |
- | 1 | 1 | 1 | 3 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112a0001c0001t0001g0116a0001c0001t0001g0125 | HG01884.hp2 HG02486.hp1 HG02965.hp1 |
MODIFIER | chr7 | C | T | TogoVar |
| 100641225:splice 100641225:variant goto | c.*2021C>T | 3240589 | Likely_pathogenic | TFR2:7036 | SO:0001587 nonsense |
MONDO:MONDO:0011417 MedGen:C1858664 OMIM:604250 Orphanet:225123 |
- | 1 | 1 | 1 | 1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | HG02559.hp2 | MODIFIER | chr7 | G | A | TogoVar |
| 100641548:splice 100641548:variant goto | c.*1698C>T | 358303 | Benign | TFR2:7036 | SO:0001623 5_prime_UTR_variant |
MedGen:C3661900|MONDO:MONDO:0011417 MedGen:C1858664 OMIM:604250 Orphanet:225123 |
- | 1 | 1 | 1 | 1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0045 | NA20129.hp2 | MODIFIER | chr7 | G | A | TogoVar |
| 100656360:splice 100656360:variant goto | c.-6G>A | 3898156 | Likely_benign | ACTL6B:51412 | SO:0001619 non-coding_transcript_variant,SO:0001623 5_prime_UTR_variant |
MedGen:C3661900 | - | 1 | 1 | 1 | 1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0046 | NA18999.hp2 | MODIFIER | chr7 | C | T | TogoVar |
| CHR:POS | annotationhgvs_chgvs_p | disease trait-log10podds or beta | AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
study | initial sample size/replication sample size | report genes | mapped gene | strongest snp risk allele | strand strand
|
impact | chr | ref | alt |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr7:100638347
|
c.*4899G>T | Hematocrit0.15 | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(243): Show |
Multiple loci influence erythrocyte phenotypes in others(22): Show |
24,167 European ancestry individuals/9,456 Europea others(22): Show |
TFR2 | TFR2 | rs7385804-C | - | MODIFIER | chr7 | C | A |
|
chr7:100638347
|
c.*4899G>T | Iron status biomarkers3.23 | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(243): Show |
Identification of a common variant in the TFR2 gen others(66): Show |
Up to 5,633 European ancestry individuals/Up to 3, others(33): Show |
TFR2 | TFR2 | rs7385804-A | - | MODIFIER | chr7 | C | A |
|
chr7:100638347
|
c.*4899G>T | Hematological parameters0.01 | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(243): Show |
A genome-wide meta-analysis identifies 22 loci ass others(70): Show |
4,627 European ancestry individuals/9,316 European others(21): Show |
TFR2 | TFR2 | rs7385804-C | - | MODIFIER | chr7 | C | A |
|
chr7:100645788
|
c.1200+461A>G | Hematocrit0.03871 | a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0006a0001c0004t0001 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0017others(64): Show | HG00099.hp1 HG00408.hp1 HG00609.hp1 HG00673.hp2 HG00738.hp1 others(84): Show |
Genetic analysis of quantitative traits in the Jap others(60): Show |
108,757 Japanese ancestry individuals/ | ACTL6B | ACTL6B | rs10953299-? | - | MODIFIER | chr7 | T | C |
|
chr7:100644788
|
c.1200+1461C>T | Mean corpuscular volume0.03573 | a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0006a0001c0005t0001 | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0019others(61): Show | HG00323.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp2 others(84): Show |
Genetic analysis of quantitative traits in the Jap others(60): Show |
108,256 Japanese ancestry individuals/ | ACTL6B | ACTL6B | rs7383856-? | - | MODIFIER | chr7 | G | A |
|
chr7:100638579
|
c.*4667C>T | Red cell distribution width0.0436834 | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(170): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(242): Show |
Red blood cell distribution width: Genetic evidenc others(43): Show |
116,666 British ancestry individuals/ | TFR2 | TFR2 | rs9801017-A | - | MODIFIER | chr7 | G | A |
|
chr7:100641799
|
c.*1447C>T | Red cell distribution width0.191794 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | HG00140.hp2 |
Red blood cell distribution width: Genetic evidenc others(43): Show |
116,666 British ancestry individuals/ | ACTL6B | TFR2 | rs531909210-A | - | MODIFIER | chr7 | G | A |
|
chr7:100642673
|
c.*573T>C | Red blood cell traits0.022 | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(173): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(245): Show |
Seventy-five genetic loci influencing the human re others(13): Show |
62,553 European ancestry individuals, 9,308 South others(63): Show |
ACTL6B, TFR2 | TFR2 | rs2075672-A | - | MODIFIER | chr7 | A | G |
|
chr7:100638347
|
c.*4899G>T | Iron status biomarkers (transferrin saturation)others(12): Show | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(243): Show |
Novel loci affecting iron homeostasis and their ef others(49): Show |
23,986 European ancestry individuals/Up to 24,986 others(29): Show |
TFR2 | TFR2 | rs7385804-A | - | MODIFIER | chr7 | C | A |
|
chr7:100638347
|
c.*4899G>T |
Iron status biomarkers (iron levels)0.06 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(243): Show |
Novel loci affecting iron homeostasis and their ef others(49): Show |
23,986 European ancestry individuals/Up to 24,986 others(29): Show |
TFR2 | TFR2 | rs7385804-A | - | MODIFIER | chr7 | C | A |
|
chr7:100638347
|
c.*4899G>T | Red blood cell count | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(243): Show |
Leveraging Polygenic Functional Enrichment to Impr others(15): Show |
approximately 445,000 European ancestry individual others(2): Show |
TFR2 | rs7385804-? | - | MODIFIER | chr7 | C | A | |
|
chr7:100642673
|
c.*573T>C | Red cell distribution width | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(173): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(245): Show |
Leveraging Polygenic Functional Enrichment to Impr others(15): Show |
approximately 445,000 European ancestry individual others(2): Show |
TFR2 | rs2075672-? | - | MODIFIER | chr7 | A | G | |
|
chr7:100638347
|
c.*4899G>T | Mean corpuscular volume0.2714 | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(243): Show |
Ancestry-specific associations identified in genom others(101): Show |
8,556 African American individuals, 17,141 Hispani others(161): Show |
TFR2 | rs7385804-? | - | MODIFIER | chr7 | C | A | |
|
chr7:100638347
|
c.*4899G>T | Mean corpuscular volume0.3308 | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(243): Show |
Ancestry-specific associations identified in genom others(101): Show |
14,483 European ancestry individuals/ | TFR2 | rs7385804-? | - | MODIFIER | chr7 | C | A | |
|
chr7:100638347
|
c.*4899G>T | Hematocrit0.1201 | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(243): Show |
Ancestry-specific associations identified in genom others(101): Show |
29,383 European ancestry individuals/ | TFR2 | rs7385804-? | - | MODIFIER | chr7 | C | A | |
|
chr7:100638347
|
c.*4899G>T | Hematocrit0.117 | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(243): Show |
Ancestry-specific associations identified in genom others(101): Show |
16,184 African American individuals, 20,704 Hispan others(162): Show |
TFR2 | rs7385804-? | - | MODIFIER | chr7 | C | A | |
|
chr7:100638347
|
c.*4899G>T | Red blood cell count0.0271 | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(243): Show |
Ancestry-specific associations identified in genom others(101): Show |
17,412 Hispanic or Latin American individuals/ | TFR2 | rs7385804-? | - | MODIFIER | chr7 | C | A | |
|
chr7:100638347
|
c.*4899G>T | Red blood cell count0.027 | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(243): Show |
Ancestry-specific associations identified in genom others(101): Show |
14,690 European ancestry individuals/ | TFR2 | rs7385804-? | - | MODIFIER | chr7 | C | A | |
|
chr7:100638347
|
c.*4899G>T | Red blood cell count0.025 | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(243): Show |
Ancestry-specific associations identified in genom others(101): Show |
8,679 African American individuals, 17,412 Hispani others(160): Show |
TFR2 | rs7385804-? | - | MODIFIER | chr7 | C | A | |
|
chr7:100638347
|
c.*4899G>T | Mean corpuscular hemoglobin0.1191 | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(243): Show |
Ancestry-specific associations identified in genom others(101): Show |
8,694 African American individuals, 17,400 Hispani others(160): Show |
TFR2 | rs7385804-? | - | MODIFIER | chr7 | C | A | |
|
chr7:100638347
|
c.*4899G>T | Mean corpuscular hemoglobin0.1347 | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(243): Show |
Ancestry-specific associations identified in genom others(101): Show |
14,693 European ancestry individuals/ | TFR2 | rs7385804-? | - | MODIFIER | chr7 | C | A | |
|
chr7:100638347
|
c.*4899G>T | Hemoglobin concentration0.0296 | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(243): Show |
Ancestry-specific associations identified in genom others(101): Show |
16,186 African American individuals, 20,692 Hispan others(162): Show |
TFR2 | rs7385804-? | - | MODIFIER | chr7 | C | A | |
|
chr7:100638347
|
c.*4899G>T | Serum levels of protein PCOLCE0.151607 | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(243): Show |
A genome-wide association study of serum proteins others(41): Show |
5,365 Icelandic ancestry individuals/ | TFR2 | rs7385804-C | - | MODIFIER | chr7 | C | A | |
|
chr7:100638970
|
c.*4276A>G | Thyroid peroxidase antibody levels in pregnancyothers(13): Show | a0001a0002 | a0001c0001a0001c0002a0001c0004a0001c0005a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(226): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(320): Show |
Genome-wide association studies of thyroid-related others(74): Show |
60,225 Chinese ancestry individuals/ | TFR2 | rs4727457-T | - | MODIFIER | chr7 | T | C | |
|
chr7:100638579
|
c.*4667C>T | Mean corpuscular volume0.31 | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(170): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(242): Show |
Assessing the impact of alcohol consumption on the others(49): Show |
362,595 British ancestry individuals/ | TFR2 | rs9801017-G | - | MODIFIER | chr7 | G | A | |
|
chr7:100638347
|
c.*4899G>T |
Iron status biomarkers (iron levels)0.05 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(243): Show |
A genome-wide meta-analysis yields 46 new loci ass others(45): Show |
163,511 European ancestry individuals/ | TFR2 | TFR2 | rs7385804-C | - | MODIFIER | chr7 | C | A |
|
chr7:100638347
|
c.*4899G>T | Iron status biomarkers (transferrin saturation)others(12): Show | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(243): Show |
A genome-wide meta-analysis yields 46 new loci ass others(45): Show |
131,471 European ancestry individuals/ | TFR2 | TFR2 | rs7385804-C | - | MODIFIER | chr7 | C | A |
|
chr7:100642673
|
c.*573T>C | Red blood cell count0.028 | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(173): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(245): Show |
Genome-wide association study of red blood cell tr others(80): Show |
12,502 Hispanic/Latino individuals/4,772 Hispanic/ others(18): Show |
TFR2, PRKAG2, MOSPD3 | TFR2 | rs2075672-A | - | MODIFIER | chr7 | A | G |
|
chr7:100642673
|
c.*573T>C | Mean corpuscular hemoglobin concentrationothers(10): Show | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(173): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(245): Show |
The Allelic Landscape of Human Blood Cell Trait Va others(44): Show |
172,851 European ancestry individuals/ | TFR2 | TFR2 | rs2075672-G | - | MODIFIER | chr7 | A | G |
|
chr7:100638347
|
c.*4899G>T | Mean corpuscular volume0.07115317 | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(243): Show |
The Allelic Landscape of Human Blood Cell Trait Va others(44): Show |
172,433 European ancestry individuals/ | TFR2 | TFR2 | rs7385804-A | - | MODIFIER | chr7 | C | A |
|
chr7:100642673
|
c.*573T>C | Platelet count0.02772454 | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(173): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(245): Show |
The Allelic Landscape of Human Blood Cell Trait Va others(44): Show |
166,066 European ancestry individuals/ | TFR2 | TFR2 | rs2075672-G | - | MODIFIER | chr7 | A | G |
|
chr7:100642568
|
c.*678T>C |
Reticulocyte fraction of red cells0.0288 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0007 | a0001c0001t0001a0001c0002t0001a0002c0007t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0022others(56): Show | HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00642.hp1 others(82): Show |
The Allelic Landscape of Human Blood Cell Trait Va others(44): Show |
170,690 European ancestry individuals/ | TFR2 | TFR2 | rs4434553-G | - | MODIFIER | chr7 | A | G |
|
chr7:100642673
|
c.*573T>C | Mean corpuscular volume | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(173): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(245): Show |
Genome-wide Trans-ethnic Meta-analysis Identifies others(89): Show |
up to 29,946 European ancestry individuals, up to others(127): Show |
TFR2, ACTL6B | TFR2 | rs2075672-? | - | MODIFIER | chr7 | A | G |
|
chr7:100638579
|
c.*4667C>T | Red cell distribution width0.04634026 | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(170): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(242): Show |
The Allelic Landscape of Human Blood Cell Trait Va others(44): Show |
171,529 European ancestry individuals/ | TFR2 | TFR2 | rs9801017-A | - | MODIFIER | chr7 | G | A |
|
chr7:100642673
|
c.*573T>C | Hemoglobin levels | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(173): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(245): Show |
Genome-wide Trans-ethnic Meta-analysis Identifies others(89): Show |
up to 40,258 European ancestry individuals, 16,128 others(125): Show |
TFR2, ACTL6B | TFR2 | rs2075672-? | - | MODIFIER | chr7 | A | G |
|
chr7:100642673
|
c.*573T>C | Red blood cell count | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(173): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(245): Show |
Genome-wide Trans-ethnic Meta-analysis Identifies others(89): Show |
up to 40,258 European ancestry individuals, up to others(135): Show |
TFR2, ACTL6B | TFR2 | rs2075672-? | - | MODIFIER | chr7 | A | G |
|
chr7:100638347
|
c.*4899G>T | Mean corpuscular volume0.0046 | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(243): Show |
Genome-wide Trans-ethnic Meta-analysis Identifies others(89): Show |
up to 29,946 European ancestry individuals, up to others(127): Show |
TFR2 | TFR2 | rs7385804-A | - | MODIFIER | chr7 | C | A |
|
chr7:100642673
|
c.*573T>C | Hematocrit0.2508 | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(173): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(245): Show |
Genome-wide Trans-ethnic Meta-analysis Identifies others(89): Show |
up to 40,258 European ancestry individuals, up to others(131): Show |
ACTL6B | TFR2 | rs2075672-A | - | MODIFIER | chr7 | A | G |
|
chr7:100642673
|
c.*573T>C | Hematocrit | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(173): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(245): Show |
Genome-wide Trans-ethnic Meta-analysis Identifies others(89): Show |
up to 40,258 European ancestry individuals, up to others(131): Show |
TFR2, ACTL6B | TFR2 | rs2075672-? | - | MODIFIER | chr7 | A | G |
|
chr7:100641799
|
c.*1447C>T | Hemoglobin concentration0.235309 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | HG00140.hp2 |
The Allelic Landscape of Human Blood Cell Trait Va others(44): Show |
172,925 European ancestry individuals/ | TFR2 | TFR2 | rs531909210-A | - | MODIFIER | chr7 | G | A |
|
chr7:100638347
|
c.*4899G>T | Mean corpuscular hemoglobin0.08382952 | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(243): Show |
The Allelic Landscape of Human Blood Cell Trait Va others(44): Show |
172,332 European ancestry individuals/ | TFR2 | TFR2 | rs7385804-A | - | MODIFIER | chr7 | C | A |
|
chr7:100638347
|
c.*4899G>T | Red blood cell count0.07396288 | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(243): Show |
The Allelic Landscape of Human Blood Cell Trait Va others(44): Show |
172,952 European ancestry individuals/ | TFR2 | TFR2 | rs7385804-A | - | MODIFIER | chr7 | C | A |
|
chr7:100638347
|
c.*4899G>T | Platelet-to-lymphocyte ratio | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(243): Show |
Genetic determinants of blood-cell traits influenc others(59): Show |
234,552 European ancestry individuals/100,478 Euro others(25): Show |
TFR2 | rs7385804-C | - | MODIFIER | chr7 | C | A | |
|
chr7:100638347
|
c.*4899G>T | Platelet-to-lymphocyte ratio | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(243): Show |
Genetic determinants of blood-cell traits influenc others(59): Show |
335,030 European ancestry, NR ancestry individuals others(1): Show |
TFR2 | rs7385804-? | - | MODIFIER | chr7 | C | A | |
|
chr7:100638347
|
c.*4899G>T | Mean corpuscular hemoglobin concentrationothers(6): Show | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(243): Show |
Genetic architecture of routinely acquired blood t others(37): Show |
38,000 South Asian ancestry individuals/ | TFR2 | rs7385804-C | - | MODIFIER | chr7 | C | A | |
|
chr7:100638347
|
c.*4899G>T | Mean corpuscular volume0.048 | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(243): Show |
Genetic architecture of routinely acquired blood t others(37): Show |
38,000 South Asian ancestry individuals/ | TFR2 | rs7385804-C | - | MODIFIER | chr7 | C | A | |
|
chr7:100638347
|
c.*4899G>T | Collagen triple helix repeat-containing protein 1 levelsothers(21): Show | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(243): Show |
Mapping the proteo-genomic convergence of human di others(7): Show |
10,708 European ancestry individuals/ | TFR2 | rs7385804-A | - | MODIFIER | chr7 | C | A | |
|
chr7:100638347
|
c.*4899G>T |
Procollagen C-endopeptidase enhancer 1 levels others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(243): Show |
Mapping the proteo-genomic convergence of human di others(7): Show |
10,708 European ancestry individuals/ | TFR2 | rs7385804-A | - | MODIFIER | chr7 | C | A | |
|
chr7:100638347
|
c.*4899G>T | Hematocrit0.15 | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(243): Show |
Whole-genome sequencing association analysis of qu others(63): Show |
33,324 Amish, White ancestry individuals, 654 Asia others(197): Show |
TFR2 | rs7385804-A | - | MODIFIER | chr7 | C | A | |
|
chr7:100638347
|
c.*4899G>T | Red blood cell count0.03 | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(243): Show |
Whole-genome sequencing association analysis of qu others(63): Show |
20,220 Amish, White ancestry individuals, 384 Asia others(197): Show |
TFR2 | rs7385804-A | - | MODIFIER | chr7 | C | A | |
|
chr7:100638347
|
c.*4899G>T | Mean corpuscular volume0.37 | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(243): Show |
Whole-genome sequencing association analysis of qu others(63): Show |
22,267 Amish, White ancestry individuals, 447 Asia others(197): Show |
TFR2 | rs7385804-A | - | MODIFIER | chr7 | C | A | |
|
chr7:100638347
|
c.*4899G>T | Mean corpuscular hemoglobin0.17 | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(243): Show |
Whole-genome sequencing association analysis of qu others(63): Show |
20,714 Amish, White ancestry individuals, 447 Asia others(197): Show |
TFR2 | rs7385804-A | - | MODIFIER | chr7 | C | A | |
|
chr7:100648253
|
c.669+303A>G | Vertex-wise cortical surface area6.44 | a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0021others(43): Show | HG00099.hp1 HG00408.hp1 HG00609.hp1 HG00673.hp2 HG00738.hp1 others(61): Show |
The genetic architecture of human cortical folding others(1): Show |
33,748 European ancestry individuals/ | ACTL6B | rs11770534-C | - | MODIFIER | chr7 | T | C | |
|
chr7:100638347
|
c.*4899G>T | Mean corpuscular hemoglobin concentrationothers(10): Show | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(243): Show |
Trans-ethnic and Ancestry-Specific Blood-Cell Gene others(54): Show |
491,553 European ancestry individuals/ | NR | TFR2 | rs7385804-A | - | MODIFIER | chr7 | C | A |
|
chr7:100642673
|
c.*573T>C | Mean corpuscular hemoglobin concentrationothers(2): Show | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(173): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(245): Show |
Trans-ethnic and Ancestry-Specific Blood-Cell Gene others(54): Show |
642,173 African American or Afro-Caribbean, Africa others(116): Show |
NR | TFR2 | rs2075672-G | - | MODIFIER | chr7 | A | G |
|
chr7:100638579
|
c.*4667C>T | Mean corpuscular volume0.041977 | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(170): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(242): Show |
Trans-ethnic and Ancestry-Specific Blood-Cell Gene others(54): Show |
121,047 East Asian ancestry individuals/ | NR | TFR2 | rs9801017-G | - | MODIFIER | chr7 | G | A |
|
chr7:100642673
|
c.*573T>C | Mean corpuscular hemoglobin0.058551 | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(173): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(245): Show |
Trans-ethnic and Ancestry-Specific Blood-Cell Gene others(54): Show |
119,629 East Asian ancestry individuals/ | NR | TFR2 | rs2075672-A | - | MODIFIER | chr7 | A | G |
|
chr7:100638579
|
c.*4667C>T | Red cell distribution width | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(170): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(242): Show |
Trans-ethnic and Ancestry-Specific Blood-Cell Gene others(54): Show |
563,352 African American or Afro-Caribbean, Africa others(116): Show |
NR | TFR2 | rs9801017-G | - | MODIFIER | chr7 | G | A |
|
chr7:100638579
|
c.*4667C>T | Red cell distribution width0.052046 | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(170): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(242): Show |
Trans-ethnic and Ancestry-Specific Blood-Cell Gene others(54): Show |
531,774 European ancestry individuals/ | NR | TFR2 | rs9801017-G | - | MODIFIER | chr7 | G | A |
|
chr7:100638347
|
c.*4899G>T |
Red blood cell haemoglobin equivalent0.0 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(243): Show |
A genome-wide association study of blood cell morp others(68): Show |
38,200 European ancestry individuals/ | TFR2 | rs7385804-A | - | MODIFIER | chr7 | C | A | |
|
chr7:100638347
|
c.*4899G>T | Reticulocyte forward scatter0.070088 | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(243): Show |
A genome-wide association study of blood cell morp others(68): Show |
38,277 European ancestry individuals/ | TFR2 | rs7385804-A | - | MODIFIER | chr7 | C | A | |
|
chr7:100638579
|
c.*4667C>T |
Microcytic percentage of red cells0.0706 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(170): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(242): Show |
A genome-wide association study of blood cell morp others(68): Show |
39,184 European ancestry individuals/ | TFR2 | rs9801017-A | - | MODIFIER | chr7 | G | A | |
|
chr7:100642673
|
c.*573T>C |
Hyper-haemoglobinised percentage of red cells others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(173): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(245): Show |
A genome-wide association study of blood cell morp others(68): Show |
38,553 European ancestry individuals/ | TFR2 | rs2075672-G | - | MODIFIER | chr7 | A | G | |
|
chr7:100638347
|
c.*4899G>T | Red blood cell forward scatter distribution widthothers(18): Show | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(243): Show |
A genome-wide association study of blood cell morp others(68): Show |
30,417 European ancestry individuals/ | TFR2 | rs7385804-A | - | MODIFIER | chr7 | C | A | |
|
chr7:100642673
|
c.*573T>C | Red blood cell side scatter0.0647136 | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(173): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(245): Show |
A genome-wide association study of blood cell morp others(68): Show |
30,528 European ancestry individuals/ | TFR2 | rs2075672-G | - | MODIFIER | chr7 | A | G | |
|
chr7:100638347
|
c.*4899G>T |
Red blood cell side fluorescence0.054042 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(243): Show |
A genome-wide association study of blood cell morp others(68): Show |
30,551 European ancestry individuals/ | TFR2 | rs7385804-A | - | MODIFIER | chr7 | C | A | |
|
chr7:100638347
|
c.*4899G>T | Red blood cell forward scatter0.076739 | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(243): Show |
A genome-wide association study of blood cell morp others(68): Show |
38,005 European ancestry individuals/ | TFR2 | rs7385804-A | - | MODIFIER | chr7 | C | A | |
|
chr7:100638579
|
c.*4667C>T |
Immature reticulocyte forward scatter0.0 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(170): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(242): Show |
A genome-wide association study of blood cell morp others(68): Show |
38,711 European ancestry individuals/ | TFR2 | rs9801017-A | - | MODIFIER | chr7 | G | A | |
|
chr7:100638347
|
c.*4899G>T |
Reticulocyte haemoglobin equivalent0.071 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(243): Show |
A genome-wide association study of blood cell morp others(68): Show |
39,127 European ancestry individuals/ | TFR2 | rs7385804-A | - | MODIFIER | chr7 | C | A | |
|
chr7:100642568
|
c.*678T>C | Pulse pressure0.1092 | a0001a0002 | a0001c0001a0001c0002a0002c0007 | a0001c0001t0001a0001c0002t0001a0002c0007t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0022others(56): Show | HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00642.hp1 others(82): Show |
Genome-wide analysis in over 1 million individuals others(86): Show |
1,028,980 European ancestry individuals/62,047 Afr others(62): Show |
TFR2 | rs4434553-G | - | MODIFIER | chr7 | A | G | |
|
chr7:100638579
|
c.*4667C>T | Procollagen C-endopeptidase enhancer 1 levels (PCOLCE.11237.49.3)others(29): Show | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(170): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(242): Show |
Genomic atlas of the human plasma proteome. | 3,301 European ancestry individuals/ | TFR2 | rs9801017-A | - | MODIFIER | chr7 | G | A | |
|
chr7:100638579
|
c.*4667C>T | Red blood cell count0.022705 | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(170): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(242): Show |
Phenome-wide analysis of Taiwan Biobank reveals no others(57): Show |
76,086 Taiwanese ancestry individuals/ | TFR2 | rs9801017-? | - | MODIFIER | chr7 | G | A | |
|
chr7:100638579
|
c.*4667C>T | mean corpuscular hemoglobin concentration (MCHC, minimum, inv-norm transformed)others(46): Show | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(170): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(242): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
114,841 African American or Afro-Caribbean individ others(130): Show |
TFR2 | rs9801017-G | - | MODIFIER | chr7 | G | A | |
|
chr7:100638579
|
c.*4667C>T | mean corpuscular hemoglobin concentration (MCHC, mean, inv-norm transformed)others(44): Show | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(170): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(242): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
114,851 African American or Afro-Caribbean individ others(130): Show |
TFR2 | rs9801017-G | - | MODIFIER | chr7 | G | A | |
|
chr7:100642673
|
c.*573T>C | mean corpuscular hemoglobin (MCH, maximum, inv-norm transformed)others(31): Show | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(173): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(245): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
114,852 African American or Afro-Caribbean individ others(130): Show |
TFR2 | rs2075672-A | - | MODIFIER | chr7 | A | G | |
|
chr7:100642673
|
c.*573T>C | mean corpuscular volume (MCV, maximum, inv-norm transformed)others(28): Show | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(173): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(245): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
114,848 African American or Afro-Caribbean individ others(130): Show |
TFR2 | rs2075672-A | - | MODIFIER | chr7 | A | G | |
|
chr7:100642673
|
c.*573T>C | mean corpuscular hemoglobin (MCH, minimum, inv-norm transformed)others(31): Show | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(173): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(245): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
114,836 African American or Afro-Caribbean individ others(130): Show |
TFR2 | rs2075672-A | - | MODIFIER | chr7 | A | G | |
|
chr7:100642673
|
c.*573T>C | mean corpuscular volume (MCV, minimum, inv-norm transformed)others(27): Show | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(173): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(245): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
114,863 African American or Afro-Caribbean individ others(130): Show |
TFR2 | rs2075672-A | - | MODIFIER | chr7 | A | G | |
|
chr7:100638347
|
c.*4899G>T | iron (mean, inv-norm transformed)0.05785 | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(243): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
30,698 African American or Afro-Caribbean individu others(128): Show |
TFR2 | rs7385804-C | - | MODIFIER | chr7 | C | A | |
|
chr7:100638347
|
c.*4899G>T |
iron (minimum, inv-norm transformed)0.04 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(243): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
30,698 African American or Afro-Caribbean individu others(128): Show |
TFR2 | rs7385804-C | - | MODIFIER | chr7 | C | A | |
|
chr7:100642673
|
c.*573T>C | mean corpuscular volume (MCV, mean, inv-norm transformed)others(25): Show | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(173): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(245): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
114,862 African American or Afro-Caribbean individ others(130): Show |
TFR2 | rs2075672-A | - | MODIFIER | chr7 | A | G | |
|
chr7:100638347
|
c.*4899G>T |
iron (maximum, inv-norm transformed)0.05 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(243): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
30,676 African American or Afro-Caribbean individu others(128): Show |
TFR2 | rs7385804-C | - | MODIFIER | chr7 | C | A | |
|
chr7:100638579
|
c.*4667C>T | mean corpuscular hemoglobin concentration (MCHC, maximum, inv-norm transformed)others(47): Show | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(170): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(242): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
114,857 African American or Afro-Caribbean individ others(130): Show |
TFR2 | rs9801017-G | - | MODIFIER | chr7 | G | A | |
|
chr7:100642673
|
c.*573T>C | mean corpuscular hemoglobin (MCH, mean, inv-norm transformed)others(28): Show | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(173): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(245): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
114,855 African American or Afro-Caribbean individ others(130): Show |
TFR2 | rs2075672-A | - | MODIFIER | chr7 | A | G | |
|
chr7:100640902
|
c.*2344A>G | Hemoglobin0.0852109 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0118a0001c0001t0001g0120a0001c0001t0001g0134a0001c0001t0001g0135 | NA18948.hp2 NA18960.hp2 NA18962.hp1 NA18985.hp2 NA19003.hp1 others(2): Show |
A cross-population atlas of genetic associations f others(24): Show |
152,447 East Asian ancestry individuals/ | TFR2 | rs41302360-C | - | MODIFIER | chr7 | T | C | |
|
chr7:100645788
|
c.1200+461A>G | Hematocrit0.0291321 | a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0006a0001c0004t0001 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0017others(64): Show | HG00099.hp1 HG00408.hp1 HG00609.hp1 HG00673.hp2 HG00738.hp1 others(84): Show |
A cross-population atlas of genetic associations f others(24): Show |
153,015 East Asian ancestry individuals/ | ACTL6B | rs10953299-C | - | MODIFIER | chr7 | T | C | |
|
chr7:100638347
|
c.*4899G>T | red cell diameter width (RDW, mean, inv-norm transformed)others(25): Show | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(243): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
380,796 European ancestry individuals/ | TFR2 | rs7385804-C | - | MODIFIER | chr7 | C | A | |
|
chr7:100642673
|
c.*573T>C | red cell diameter width (RDW, minimum, inv-norm transformed)others(26): Show | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(173): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(245): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
51,949 Hispanic or Latin American individuals/ | TFR2 | rs2075672-A | - | MODIFIER | chr7 | A | G | |
|
chr7:100642673
|
c.*573T>C | red blood cell count (RBC, minimum, inv-norm transformed)others(23): Show | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(173): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(245): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
114,768 African American or Afro-Caribbean individ others(5): Show |
TFR2 | rs2075672-A | - | MODIFIER | chr7 | A | G | |
|
chr7:100642673
|
c.*573T>C | red blood cell count (RBC, mean, inv-norm transformed)others(21): Show | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(173): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(245): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
114,768 African American or Afro-Caribbean individ others(5): Show |
TFR2 | rs2075672-A | - | MODIFIER | chr7 | A | G | |
|
chr7:100638579
|
c.*4667C>T | red cell diameter width (RDW, mean, inv-norm transformed)others(24): Show | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(170): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(242): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
110,558 African American or Afro-Caribbean individ others(5): Show |
TFR2 | rs9801017-G | - | MODIFIER | chr7 | G | A | |
|
chr7:100638347
|
c.*4899G>T | red cell diameter width (RDW, maximum, inv-norm transformed)others(28): Show | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(243): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
380,351 European ancestry individuals/ | TFR2 | rs7385804-C | - | MODIFIER | chr7 | C | A | |
|
chr7:100642673
|
c.*573T>C | red cell diameter width (RDW, mean, inv-norm transformed)others(24): Show | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(173): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(245): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
51,938 Hispanic or Latin American individuals/ | TFR2 | rs2075672-A | - | MODIFIER | chr7 | A | G | |
|
chr7:100642673
|
c.*573T>C | red blood cell count (RBC, maximum, inv-norm transformed)others(23): Show | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(173): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(245): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
114,767 African American or Afro-Caribbean individ others(5): Show |
TFR2 | rs2075672-A | - | MODIFIER | chr7 | A | G | |
|
chr7:100642673
|
c.*573T>C | red cell diameter width (RDW, minimum, inv-norm transformed)others(27): Show | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(173): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(245): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
110,610 African American or Afro-Caribbean individ others(5): Show |
TFR2 | rs2075672-A | - | MODIFIER | chr7 | A | G | |
|
chr7:100638347
|
c.*4899G>T | red cell diameter width (RDW, minimum, inv-norm transformed)others(28): Show | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(243): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
380,819 European ancestry individuals/ | TFR2 | rs7385804-C | - | MODIFIER | chr7 | C | A | |
|
chr7:100638579
|
c.*4667C>T | transferrin saturation (TSAT, maximum, inv-norm transformed)others(27): Show | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(170): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(242): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
55,782 European ancestry individuals/ | TFR2 | rs9801017-G | - | MODIFIER | chr7 | G | A | |
|
chr7:100638579
|
c.*4667C>T | transferrin saturation (TSAT, mean, inv-norm transformed)others(24): Show | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(170): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(242): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
55,766 European ancestry individuals/ | TFR2 | rs9801017-G | - | MODIFIER | chr7 | G | A | |
|
chr7:100638579
|
c.*4667C>T | transferrin saturation (TSAT, minimum, inv-norm transformed)others(27): Show | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(170): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(242): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
55,756 European ancestry individuals/ | TFR2 | rs9801017-G | - | MODIFIER | chr7 | G | A | |
|
chr7:100642673
|
c.*573T>C | Mean corpuscular hemoglobin concentrationothers(10): Show | a0001a0002 | a0001c0001a0001c0002a0001c0005a0001c0006a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(173): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(245): Show |
The Polygenic and Monogenic Basis of Blood Traits others(13): Show |
408,112 British individuals/ | TFR2 | TFR2 | rs2075672-A | - | MODIFIER | chr7 | A | G |
| pos | genenamehgvs_chgvs_pannotation | tissueexpression gene-log10(pval)slope Tissue name in GTEx database(the target eQTL tissue name of the GTEx database)The -log10(nominal pvalue) in GTEx databaseSlope in GTEx database (positive value:alt allele has higher gene expression) |
ahapidchapidthapidghapid ahapid_countchapid_countthapid_countghapid_count
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
af allele frequency in GTEx database |
ms The number of samples with minor allele in GTEx database |
ma The number of minor allele count in GTEx database |
ver GTEx version |
vid Variant ID in GTEx database |
strand strand
|
impact | chr | ref | alt | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 100643148:splice 100643148:variant goto | ACTL6B3_prime_UTR_variantc.*98T>A | PVRIG Adipose_Subcutaneous 3.506 -0.205 | 269233 | a0001a0002 | a0001c0001a0001c0002a0001c0004a0001c0005a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0006a0001c0002t0001others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(228): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(322): Show |
0.863 | 180 | 195 | 10 | chr7_100643148_A_T_b38 | - | MODIFIER | chr7 | A | T | TogoVar |
| 100643148:splice 100643148:variant goto | ACTL6B3_prime_UTR_variantc.*98T>A | NYAP1 Adipose_Subcutaneous 3.520 -0.176 | 269233 | a0001a0002 | a0001c0001a0001c0002a0001c0004a0001c0005a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0006a0001c0002t0001others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(228): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(322): Show |
0.863 | 180 | 195 | 10 | chr7_100643148_A_T_b38 | - | MODIFIER | chr7 | A | T | TogoVar |
| 100643148:splice 100643148:variant goto | ACTL6B3_prime_UTR_variantc.*98T>A | TFR2 Adipose_Subcutaneous 8.164 -0.318 | 269233 | a0001a0002 | a0001c0001a0001c0002a0001c0004a0001c0005a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0006a0001c0002t0001others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(228): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(322): Show |
0.863 | 180 | 195 | 10 | chr7_100643148_A_T_b38 | - | MODIFIER | chr7 | A | T | TogoVar |
| 100643148:splice 100643148:variant goto | ACTL6B3_prime_UTR_variantc.*98T>A | GIGYF1 Adipose_Subcutaneous 23.444 -0.256 | 269233 | a0001a0002 | a0001c0001a0001c0002a0001c0004a0001c0005a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0006a0001c0002t0001others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(228): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(322): Show |
0.863 | 180 | 195 | 10 | chr7_100643148_A_T_b38 | - | MODIFIER | chr7 | A | T | TogoVar |
| 100643148:splice 100643148:variant goto | ACTL6B3_prime_UTR_variantc.*98T>A | GIGYF1 Adipose_Visceral_Omentum 9.080 -0.197 | 269233 | a0001a0002 | a0001c0001a0001c0002a0001c0004a0001c0005a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0006a0001c0002t0001others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(228): Show |
