| geneid | 14 |
|---|---|
| ensemblid | ENSG00000127837.10 |
| hgncid | 18 |
| symbol | AAMP |
| name | angio associated migratory cell protein |
| refseq_nuc | NM_001087.5 |
| refseq_prot | NP_001078.2 |
| ensembl_nuc | ENST00000248450.9 |
| ensembl_prot | ENSP00000248450.4 |
| mane_status | MANE Select |
| chr | chr2 |
| start | 218264129 |
| end | 218270137 |
| strand | - |
| ver | v1.2 |
| region | chr2:218264129-218270137 |
| region5000 | chr2:218259129-218275137 |
| regionname0 | AAMP_chr2_218264129_218270137 |
| regionname5000 | AAMP_chr2_218259129_218275137 |
| 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 |
|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr2:218264337
|
A | G | 0.9550 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(379): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(47): Show | 382 | 400 | 0 | AAMP | ENSG00000127837.10 | transcript | ENST00000248450.9 | protein_coding | 11/11 | c.*196T>C | 196 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAMP | 1/1 | a0001 | 434 | 376 | 92 | 75 | 154 | 16 | 37 | subcellular location copy fasta | chr2 | 218259129 | 218275137 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAMP | 1/1 | c0001 | 1305 | 369 | 89 | 75 | 152 | 16 | 35 | copy fasta | chr2 | 218259129 | 218275137 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAMP | 0/1 | t0001 | 456 | 380 | 77 | 80 | 168 | 16 | 38 | copy fasta | chr2 | 218259129 | 218275137 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAMP | 1/1 | a0001c0001 | 369 | 89 | 75 | 152 | 16 | 35 | 1305 | copy fasta | chr2 | 218259129 | 218275137 |
| 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 |
acthapid | total | AFR | AMR | EAS | EUR | SAS | tlen | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAMP | 0/1 | a0001c0001t0001 | 349 | 72 | 75 | 150 | 16 | 35 | 1760 | copy fasta | chr2 | 218259129 | 218275137 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 218269966 | - | 1 | -0.9860 | -0.9843 | -0.9836 | 0.0024 | acceptor | a0001c0001t0001 | HG03669.hp1 HG03927.hp2 HG04204.hp2 |
HG03041.hp2 HG03579.hp2 |
AAMP | chr2 | 218259129 | 218275137 |
| 218269382 | - | 2 | -0.9969 | -0.9953 | -0.9950 | 0.0019 | acceptor | a0001c0001t0001 | NA18940.hp1 NA18941.hp2 NA18946.hp2 NA18949.hp1 NA18984.hp1 others(2): Show |
HG01167.hp1 | AAMP | chr2 | 218259129 | 218275137 |
| 218269534 | - | 2 | 0.9659 | 0.9641 | 0.9628 | 0.0031 | donor | a0001c0001t0001 | HG03704.hp2 | HG03041.hp2 HG03579.hp2 |
AAMP | chr2 | 218259129 | 218275137 |
| 218267494 | - | 3 | -0.9982 | -0.9978 | -0.9974 | 0.0008 | acceptor | a0001c0001t0001 | HG02074.hp1 HG02622.hp1 |
HG03041.hp2 HG03579.hp2 |
AAMP | chr2 | 218259129 | 218275137 |
| 218267613 | - | 3 | 0.9915 | 0.9861 | 0.9661 | 0.0255 | donor | a0001c0001t0001 | HG02615.hp1 HG02630.hp1 HG02809.hp2 |
HG00099.hp1 HG01069.hp2 HG01169.hp1 |
AAMP | chr2 | 218259129 | 218275137 |
| 218266847 | - | 4 | -0.9982 | -0.9975 | -0.9974 | 0.0008 | acceptor | a0001c0001t0001 | HG01975.hp2 HG02055.hp2 HG02109.hp2 HG02145.hp2 HG02258.hp2 others(7): Show |
HG02717.hp1 HG02809.hp1 HG03486.hp1 |
AAMP | chr2 | 218259129 | 218275137 |
| 218266986 | - | 4 | 0.9924 | 0.9827 | 0.9805 | 0.0120 | donor | a0001c0001t0001 | HG01891.hp1 HG02055.hp1 HG02257.hp1 HG02280.hp2 HG02647.hp2 others(6): Show |
HG03831.hp1 | AAMP | chr2 | 218259129 | 218275137 |
| 218266443 | - | 5 | -0.9666 | -0.9658 | -0.9551 | 0.0116 | acceptor | a0001c0001t0001 | HG03831.hp1 | HG02738.hp2 | AAMP | chr2 | 218259129 | 218275137 |
| 218266587 | - | 5 | 0.9686 | 0.9681 | 0.9607 | 0.0079 | donor | a0001c0001t0001 | HG01167.hp1 | HG02738.hp2 | AAMP | chr2 | 218259129 | 218275137 |
| 218266064 | - | 6 | -0.9768 | -0.9741 | -0.9731 | 0.0037 | acceptor | a0001c0001t0001 | HG02451.hp1 | HG02615.hp1 HG02630.hp1 HG02809.hp2 |
AAMP | chr2 | 218259129 | 218275137 |
| 218266147 | - | 6 | 0.9748 | 0.9739 | 0.9708 | 0.0040 | donor | a0001c0001t0001 | HG02622.hp1 | HG02451.hp1 | AAMP | chr2 | 218259129 | 218275137 |
| 218265831 | - | 7 | -0.9983 | -0.9983 | -0.9982 | 0.0001 | acceptor | a0001c0001t0001 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 |
HG03239.hp2 HG03654.hp2 |
AAMP | chr2 | 218259129 | 218275137 |
| 218265946 | - | 7 | 0.9860 | 0.9853 | 0.9848 | 0.0012 | donor | a0001c0001t0001 | HG03209.hp1 | HG02451.hp1 | AAMP | chr2 | 218259129 | 218275137 |
| 218265579 | - | 8 | -0.9464 | -0.9439 | -0.9429 | 0.0035 | acceptor | a0001c0001t0001 | HG01167.hp1 | HG03239.hp2 HG03654.hp2 |
AAMP | chr2 | 218259129 | 218275137 |
| 218265682 | - | 8 | 0.9493 | 0.9477 | 0.9467 | 0.0026 | donor | a0001c0001t0001 | HG01167.hp1 | HG01891.hp1 HG02055.hp1 HG02257.hp1 HG02280.hp2 HG02647.hp2 others(6): Show |
AAMP | chr2 | 218259129 | 218275137 |
| 218265371 | - | 9 | -0.9875 | -0.9847 | -0.9839 | 0.0037 | acceptor | a0001c0001t0001 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 |
HG02056.hp1 NA18612.hp1 |
AAMP | chr2 | 218259129 | 218275137 |
| 218265461 | - | 9 | 0.9749 | 0.9728 | 0.9718 | 0.0031 | donor | a0001c0001t0001 | HG02615.hp2 HG02922.hp2 HG03139.hp2 |
HG03239.hp2 HG03654.hp2 |
AAMP | chr2 | 218259129 | 218275137 |
| 218265020 | - | 10 | -0.9984 | -0.9984 | -0.9981 | 0.0004 | acceptor | a0001c0001t0001 | NA19007.hp1 | HG03239.hp2 HG03654.hp2 |
AAMP | chr2 | 218259129 | 218275137 |
| 218265174 | - | 10 | 0.9952 | 0.9922 | 0.9921 | 0.0031 | donor | a0001c0001t0001 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 |
HG03239.hp2 HG03654.hp2 |
AAMP | chr2 | 218259129 | 218275137 |
| 218264608 | - | 11 | 0.7964 | 0.7677 | 0.7587 | 0.0376 | donor | a0001c0001t0001 | NA19007.hp1 | HG02622.hp1 | AAMP | chr2 | 218259129 | 218275137 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 218262745:splice 218262745:variant goto | c.*1788G>C | 727294 | Benign | GPBAR1:151306 | SO:0001819 synonymous_variant |
MedGen:C3661900 | - | 1 | 1 | 1 | 1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | HG03710.hp1 | MODIFIER | chr2 | C | G | TogoVar |
| 218263229:splice 218263229:variant goto | c.*1304C>T | 501323 | Benign | GPBAR1:151306 | SO:0001583 missense_variant |
MedGen:C3661900|MedGen:CN169374 | - | 1 | 1 | 1 | 1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | HG03239.hp2 HG03654.hp2 |
MODIFIER | chr2 | G | A | TogoVar |
| 218263360:splice 218263360:variant goto | c.*1173G>A | 596027 | Benign/Likely_benign | GPBAR1:151306 | SO:0001819 synonymous_variant |
MedGen:C3661900|MedGen:CN169374|. | - | 1 | 1 | 1 | 1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | HG02698.hp2 | MODIFIER | chr2 | C | T | TogoVar |
| 218263611:splice 218263611:variant goto | c.*922T>C | 720025 | Benign | GPBAR1:151306 | SO:0001583 missense_variant |
.|MedGen:C3661900 | - | 1 | 1 | 1 | 1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | HG02572.hp1 | MODIFIER | chr2 | A | G | TogoVar |
| 218270227:splice 218270227:variant goto | c.-141G>A | 1290564 | Benign | PNKD:25953 | . | MedGen:C3661900 | - | 4 | 7 | 8 | 24 | a0001a0002a0003a0004 | a0001c0001a0001c0004a0001c0007a0001c0009a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001a0001c0007t0001a0001c0009t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0010a0001c0001t0001g0011others(19): Show | HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00544.hp2 others(183): Show |
MODIFIER | chr2 | C | T | TogoVar |
| 218271207:splice 218271207:variant goto | c.-1121G>A | 1296572 | Benign | PNKD:25953 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 2 | 2 | 5 | a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0041a0001c0003t0001g0029a0001c0003t0001g0056 | HG01243.hp2 HG01884.hp2 HG02559.hp2 HG02818.hp2 HG02886.hp1 others(7): Show |
MODIFIER | chr2 | C | T | TogoVar |
| 218272729:splice 218272729:variant goto | c.-2643C>T | 518335 | Benign | PNKD:25953 | SO:0001627 intron_variant,SO:0001819 synonymous_variant |
MONDO:MONDO:0700089 MedGen:C4551506 OMIM:118800 Orphanet:98810 |
- | 1 | 1 | 1 | 2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0008 | HG00558.hp1 HG00597.hp2 NA18943.hp2 NA19080.hp2 |
MODIFIER | chr2 | G | A | TogoVar |
| 218263445:splice 218263445:variant goto | c.*1088C>T | 3854903 | Uncertain_significance | GPBAR1:151306 | SO:0001583 missense_variant |
MedGen:CN169374 | - | 1 | 2 | 2 | 2 | a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0001a0001c0007t0001g0031 | HG03942.hp1 NA18947.hp1 |
MODIFIER | chr2 | G | A | TogoVar |
| 218270205:splice 218270205:variant goto | c.-119T>C | 1226098 | Benign | PNKD:25953 | . | MedGen:C3661900 | - | 3 | 3 | 4 | 21 | a0001a0005a0006 | a0001c0001a0005c0008a0006c0010 | a0001c0001t0001a0001c0001t0003a0005c0008t0001a0006c0010t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0009others(16): Show | HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00544.hp1 HG00609.hp1 others(170): Show |
MODIFIER | chr2 | A | G | TogoVar |
| 218270290:splice 218270290:variant goto | c.-204C>T | 1181914 | Benign | PNKD:25953 | . | MedGen:C3661900 | - | 1 | 1 | 1 | 5 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0023 | HG01109.hp2 HG01891.hp1 HG01975.hp2 HG02055.hp1 HG02055.hp2 others(30): Show |
MODIFIER | chr2 | G | A | TogoVar |
| 218263372:splice 218263372:variant goto | c.*1161C>G | 3056324 | Benign | GPBAR1:151306 | SO:0001819 synonymous_variant |
. | - | 1 | 1 | 1 | 3 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 others(1): Show |
MODIFIER | chr2 | G | C | TogoVar |
| 218272270:splice 218272270:variant goto | c.-2184G>A | 1196909 | Likely_benign | PNKD:25953 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 1 | 1 | 1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | HG02717.hp1 HG02809.hp1 HG03486.hp1 |
MODIFIER | chr2 | C | T | TogoVar |
| 218263335:splice 218263335:variant goto | c.*1198C>T | 596462 | Uncertain_significance | GPBAR1:151306 | SO:0001583 missense_variant |
.|MedGen:C3661900 | - | 1 | 1 | 1 | 1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | HG02622.hp1 | MODIFIER | chr2 | G | A | TogoVar |
| 218270700:splice 218270700:variant goto | c.-614G>C | 1204275 | Likely_benign | PNKD:25953 LOC129935594:129935594 |
SO:0001627 intron_variant |
MedGen:C3661900 | - | 2 | 2 | 2 | 2 | a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0003a0005c0008t0001 | a0001c0001t0003g0030a0005c0008t0001g0032 | NA18522.hp1 NA18971.hp2 NA19074.hp2 |
MODIFIER | chr2 | C | G | TogoVar |
| 218271251:splice 218271251:variant goto | c.-1165G>C | 1201746 | Likely_benign | PNKD:25953 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 2 | 2 | 2 | 2 | a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0003a0005c0008t0001 | a0001c0001t0003g0030a0005c0008t0001g0032 | NA18522.hp1 NA18971.hp2 NA19074.hp2 |
MODIFIER | chr2 | C | G | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr2:218265791
|
c.879+40C>T | Smooth-surface caries8.4526 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0042a0001c0001t0001g0047 | HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 others(2): Show |
Genome-wide association studies of pit-and-fissure others(51): Show |
982 European ancestry individuals/ | CXCR2, AAMP, CXCR1 | AAMP | rs1079204-A | - | MODIFIER | chr2 | G | A |
|
chr2:218273447
|
c.-3361A>C | Liver enzyme levels (alkaline phosphatase)others(12): Show | a0001a0002a0003a0004 | a0001c0001a0001c0004a0001c0009a0002c0002a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001a0001c0009t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0010a0001c0001t0001g0011others(18): Show | HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00544.hp2 others(177): Show |
Genetic analysis in European ancestry individuals others(50): Show |
437,438 European ancestry individuals/315,572 Euro others(25): Show |
PNKD | PNKD | rs10716631-T | - | MODIFIER | chr2 | T | G |
|
chr2:218268008
|
c.275-395C>T | Liver enzyme levels (gamma-glutamyl transferase)others(18): Show | a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0001a0006c0010t0001 | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0018a0001c0001t0001g0021others(8): Show | HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00544.hp1 HG00609.hp1 others(131): Show |
Genetic analysis in European ancestry individuals others(50): Show |
437,194 European ancestry individuals/315,572 Euro others(25): Show |
AAMP | AAMP | rs4674279-G | - | MODIFIER | chr2 | G | A |
|
chr2:218273447
|
c.-3361A>C | Plateletcrit0.02356192 | a0001a0002a0003a0004 | a0001c0001a0001c0004a0001c0009a0002c0002a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001a0001c0009t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0010a0001c0001t0001g0011others(18): Show | HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00544.hp2 others(177): Show |
The Allelic Landscape of Human Blood Cell Trait Va others(44): Show |
164,339 European ancestry individuals/ | PNKD | PNKD | rs10716631-G | - | MODIFIER | chr2 | T | G |
|
chr2:218274217
|
c.-4131G>A |
High light scatter reticulocyte count0.0 others(6): Show |
a0001a0002a0003a0004 | a0001c0001a0001c0004a0001c0007a0001c0009a0002c0002others(2): Show | a0001c0001t0001a0001c0004t0001a0001c0007t0001a0001c0009t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0010a0001c0001t0001g0011others(17): Show | HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00544.hp2 others(177): Show |
The Allelic Landscape of Human Blood Cell Trait Va others(44): Show |
170,761 European ancestry individuals/ | TMBIM1 | TMBIM1, PNKD | rs4791-T | - | MODIFIER | chr2 | C | T |
|
chr2:218274217
|
c.-4131G>A |
Reticulocyte fraction of red cells0.0314 others(4): Show |
a0001a0002a0003a0004 | a0001c0001a0001c0004a0001c0007a0001c0009a0002c0002others(2): Show | a0001c0001t0001a0001c0004t0001a0001c0007t0001a0001c0009t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0010a0001c0001t0001g0011others(17): Show | HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00544.hp2 others(177): Show |
The Allelic Landscape of Human Blood Cell Trait Va others(44): Show |
170,690 European ancestry individuals/ | TMBIM1 | TMBIM1, PNKD | rs4791-T | - | MODIFIER | chr2 | C | T |
|
chr2:218274217
|
c.-4131G>A | Reticulocyte count0.02978423 | a0001a0002a0003a0004 | a0001c0001a0001c0004a0001c0007a0001c0009a0002c0002others(2): Show | a0001c0001t0001a0001c0004t0001a0001c0007t0001a0001c0009t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0010a0001c0001t0001g0011others(17): Show | HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00544.hp2 others(177): Show |
The Allelic Landscape of Human Blood Cell Trait Va others(44): Show |
170,641 European ancestry individuals/ | TMBIM1 | TMBIM1, PNKD | rs4791-T | - | MODIFIER | chr2 | C | T |
|
chr2:218273447
|
c.-3361A>C | High light scatter reticulocyte percentage of red cellsothers(24): Show | a0001a0002a0003a0004 | a0001c0001a0001c0004a0001c0009a0002c0002a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001a0001c0009t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0010a0001c0001t0001g0011others(18): Show | HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00544.hp2 others(177): Show |
The Allelic Landscape of Human Blood Cell Trait Va others(44): Show |
170,763 European ancestry individuals/ | PNKD | PNKD | rs10716631-G | - | MODIFIER | chr2 | T | G |
|
chr2:218274217
|
c.-4131G>A | Red cell distribution width | a0001a0002a0003a0004 | a0001c0001a0001c0004a0001c0007a0001c0009a0002c0002others(2): Show | a0001c0001t0001a0001c0004t0001a0001c0007t0001a0001c0009t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0010a0001c0001t0001g0011others(17): Show | HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00544.hp2 others(177): Show |
Trans-ethnic and Ancestry-Specific Blood-Cell Gene others(54): Show |
563,352 African American or Afro-Caribbean, Africa others(116): Show |
NR | TMBIM1, PNKD | rs4791-C | - | MODIFIER | chr2 | C | T |
|
chr2:218273447
|
c.-3361A>C | Low density lipoprotein cholesterol levelsothers(2): Show | a0001a0002a0003a0004 | a0001c0001a0001c0004a0001c0009a0002c0002a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001a0001c0009t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0010a0001c0001t0001g0011others(18): Show | HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00544.hp2 others(177): Show |
The power of genetic diversity in genome-wide asso others(26): Show |
40,963 South Asian ancestry individuals, 48,057 Hi others(157): Show |
PNKD | rs10716631-? | - | MODIFIER | chr2 | T | G | |
|
chr2:218270227
|
c.-141G>A | Basophil count0.01594167 | a0001a0002a0003a0004 | a0001c0001a0001c0004a0001c0007a0001c0009a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001a0001c0007t0001a0001c0009t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0010a0001c0001t0001g0011others(19): Show | HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00544.hp2 others(183): Show |
The Polygenic and Monogenic Basis of Blood Traits others(13): Show |
408,112 British individuals/ | AAMP | PNKD | rs13419763-T | - | MODIFIER | chr2 | C | T |
|
chr2:218259499
|
c.*5034C>T |
High light scatter reticulocyte count0.0 others(8): Show |
a0001a0002a0003a0004 | a0001c0001a0001c0004a0001c0007a0001c0009a0002c0002others(2): Show | a0001c0001t0001a0001c0004t0001a0001c0007t0001a0001c0009t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0010others(18): Show | HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 others(174): Show |
The Polygenic and Monogenic Basis of Blood Traits others(13): Show |
408,112 British individuals/ | GPBAR1 | GPBAR1 | rs3731859-A | - | MODIFIER | chr2 | G | A |
|
chr2:218270227
|
c.-141G>A | Neutrophil count0.017334167 | a0001a0002a0003a0004 | a0001c0001a0001c0004a0001c0007a0001c0009a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001a0001c0007t0001a0001c0009t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0010a0001c0001t0001g0011others(19): Show | HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00544.hp2 others(183): Show |
The Polygenic and Monogenic Basis of Blood Traits others(13): Show |
408,112 British individuals/ | AAMP | PNKD | rs13419763-T | - | MODIFIER | chr2 | C | T |
|
chr2:218260198
|
c.*4335A>T | Monocyte count0.022228187 | a0001a0002a0003a0004a0005 | a0001c0001a0001c0004a0001c0007a0001c0009a0002c0002others(3): Show | a0001c0001t0001a0001c0004t0001a0001c0007t0001a0001c0009t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0010others(19): Show | HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 others(175): Show |
The Polygenic and Monogenic Basis of Blood Traits others(13): Show |
408,112 British individuals/ | GPBAR1 | GPBAR1 | rs13003334-T | - | MODIFIER | chr2 | T | A |
|
chr2:218260198
|
c.*4335A>T | White blood cell count0.016930208 | a0001a0002a0003a0004a0005 | a0001c0001a0001c0004a0001c0007a0001c0009a0002c0002others(3): Show | a0001c0001t0001a0001c0004t0001a0001c0007t0001a0001c0009t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0010others(19): Show | HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 others(175): Show |
The Polygenic and Monogenic Basis of Blood Traits others(13): Show |
408,112 British individuals/ | GPBAR1 | GPBAR1 | rs13003334-A | - | MODIFIER | chr2 | T | A |
|
chr2:218270227
|
c.-141G>A | red cell diameter width (RDW, minimum, inv-norm transformed)others(26): Show | a0001a0002a0003a0004 | a0001c0001a0001c0004a0001c0007a0001c0009a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001a0001c0007t0001a0001c0009t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0010a0001c0001t0001g0011others(19): Show | HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00544.hp2 others(183): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
110,610 African American or Afro-Caribbean individ others(130): Show |
PNKD | rs13419763-C | - | MODIFIER | chr2 | C | T |