| geneid | 94 |
|---|---|
| ensemblid | ENSG00000139567.13 |
| hgncid | 175 |
| symbol | ACVRL1 |
| name | activin A receptor like type 1 |
| refseq_nuc | NM_000020.3 |
| refseq_prot | NP_000011.2 |
| ensembl_nuc | ENST00000388922.9 |
| ensembl_prot | ENSP00000373574.4 |
| mane_status | MANE Select |
| chr | chr12 |
| start | 51907504 |
| end | 51923361 |
| strand | + |
| ver | v1.2 |
| region | chr12:51907504-51923361 |
| region5000 | chr12:51902504-51928361 |
| regionname0 | ACVRL1_chr12_51907504_51923361 |
| regionname5000 | ACVRL1_chr12_51902504_51928361 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:51922139
|
T | C | 0.6758 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(293): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(31): Show | a0001c0001t0002g0004a0001c0001t0002g0005a0001c0001t0002g0006others(122): Show | 296 | 438 | 0 | ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 10/10 | c.*1246T>C | 1246 |
| chr:pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:51910937
|
G | A | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0078 | 1 | 438 | 0.0023 | 0 | ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 1/9 | c.-5-1533G>A | ||||||
|
chr12:51912002
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(334): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0032others(145): Show | 337 | 438 | 0.7694 | 0 | ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 1/9 | c.-5-468C>T | ||||||
|
chr12:51912903
|
C | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(143): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0030others(71): Show | 146 | 438 | 0.3333 | 0 | ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 2/9 | c.62-196C>G | ||||||
|
chr12:51913361
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(166): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(22): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0030others(87): Show | 169 | 438 | 0.3858 | 0 | ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 3/9 | c.313+11C>T | ||||||
|
chr12:51913524
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(168): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(23): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0030others(89): Show | 171 | 438 | 0.3904 | 0 | ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 3/9 | c.314-35A>G | ||||||
|
chr12:51914716
|
T | TTTTAA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(184): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0033others(81): Show | 187 | 438 | 0.4269 | 5 | ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 6/9 | c.772+175_772+179dupAATTT | INFO_REALIGN_3_PRIME |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACVRL1 | 1/1 | a0001 | 503 | 435 | 95 | 76 | 203 | 14 | 45 | subcellular location copy fasta | chr12 | 51902504 | 51928361 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACVRL1 | 1/1 | c0001 | 1512 | 396 | 62 | 71 | 203 | 14 | 44 | copy fasta | chr12 | 51902504 | 51928361 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACVRL1 | 0/1 | t0002 | 2666 | 114 | 15 | 23 | 45 | 6 | 24 | copy fasta | chr12 | 51902504 | 51928361 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| ACVRL1 | 0/0 | g0078 | 1 | 0 | 1 | 0 | 0 | 0 | chr12 | 51902504 | 51928361 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACVRL1 | 1/1 | a0001c0001 | 396 | 62 | 71 | 203 | 14 | 44 | 1512 | copy fasta | chr12 | 51902504 | 51928361 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACVRL1 | 0/1 | a0001c0001t0002 | 114 | 15 | 23 | 45 | 6 | 24 | 4177 | copy fasta | chr12 | 51902504 | 51928361 |
| 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 |
actghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| ACVRL1 | 0/0 | a0001c0001t0002g0078 | 1 | 0 | 1 | 0 | 0 | 0 | chr12 | 51902504 | 51928361 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 51907695 | + | 1 | -0.8395 | -0.8395 | -0.8395 | 0.0000 | acceptor | a0001c0001t0002g0078 | HG01175.hp2 | HG01175.hp2 | ACVRL1 | chr12 | 51902504 | 51928361 |
| 51912470 | + | 2 | 0.9953 | 0.9953 | 0.9953 | 0.0000 | donor | a0001c0001t0002g0078 | HG01175.hp2 | HG01175.hp2 | ACVRL1 | chr12 | 51902504 | 51928361 |
| 51912535 | + | 2 | -0.9969 | -0.9969 | -0.9969 | 0.0000 | acceptor | a0001c0001t0002g0078 | HG01175.hp2 | HG01175.hp2 | ACVRL1 | chr12 | 51902504 | 51928361 |
| 51913099 | + | 3 | 0.9663 | 0.9663 | 0.9663 | 0.0000 | donor | a0001c0001t0002g0078 | HG01175.hp2 | HG01175.hp2 | ACVRL1 | chr12 | 51902504 | 51928361 |
| 51913350 | + | 3 | -0.9900 | -0.9900 | -0.9900 | 0.0000 | acceptor | a0001c0001t0002g0078 | HG01175.hp2 | HG01175.hp2 | ACVRL1 | chr12 | 51902504 | 51928361 |
| 51913559 | + | 4 | 0.9830 | 0.9830 | 0.9830 | 0.0000 | donor | a0001c0001t0002g0078 | HG01175.hp2 | HG01175.hp2 | ACVRL1 | chr12 | 51902504 | 51928361 |
| 51913770 | + | 4 | -0.9647 | -0.9647 | -0.9647 | 0.0000 | acceptor | a0001c0001t0002g0078 | HG01175.hp2 | HG01175.hp2 | ACVRL1 | chr12 | 51902504 | 51928361 |
| 51913974 | + | 5 | 0.8325 | 0.8325 | 0.8325 | 0.0000 | donor | a0001c0001t0002g0078 | HG01175.hp2 | HG01175.hp2 | ACVRL1 | chr12 | 51902504 | 51928361 |
| 51914073 | + | 5 | -0.6656 | -0.6656 | -0.6656 | 0.0000 | acceptor | a0001c0001t0002g0078 | HG01175.hp2 | HG01175.hp2 | ACVRL1 | chr12 | 51902504 | 51928361 |
| 51914439 | + | 6 | 0.9333 | 0.9333 | 0.9333 | 0.0000 | donor | a0001c0001t0002g0078 | HG01175.hp2 | HG01175.hp2 | ACVRL1 | chr12 | 51902504 | 51928361 |
| 51914585 | + | 6 | -0.3047 | -0.3047 | -0.3047 | 0.0000 | acceptor | a0001c0001t0002g0078 | HG01175.hp2 | HG01175.hp2 | ACVRL1 | chr12 | 51902504 | 51928361 |
| 51915225 | + | 7 | 0.9962 | 0.9962 | 0.9962 | 0.0000 | donor | a0001c0001t0002g0078 | HG01175.hp2 | HG01175.hp2 | ACVRL1 | chr12 | 51902504 | 51928361 |
| 51915500 | + | 7 | -0.9959 | -0.9959 | -0.9959 | 0.0000 | acceptor | a0001c0001t0002g0078 | HG01175.hp2 | HG01175.hp2 | ACVRL1 | chr12 | 51902504 | 51928361 |
| 51916036 | + | 8 | 0.9497 | 0.9497 | 0.9497 | 0.0000 | donor | a0001c0001t0002g0078 | HG01175.hp2 | HG01175.hp2 | ACVRL1 | chr12 | 51902504 | 51928361 |
| 51916233 | + | 8 | -0.9983 | -0.9983 | -0.9983 | 0.0000 | acceptor | a0001c0001t0002g0078 | HG01175.hp2 | HG01175.hp2 | ACVRL1 | chr12 | 51902504 | 51928361 |
| 51918985 | + | 9 | 0.9978 | 0.9978 | 0.9978 | 0.0000 | donor | a0001c0001t0002g0078 | HG01175.hp2 | HG01175.hp2 | ACVRL1 | chr12 | 51902504 | 51928361 |
| 51919115 | + | 9 | -0.9928 | -0.9928 | -0.9928 | 0.0000 | acceptor | a0001c0001t0002g0078 | HG01175.hp2 | HG01175.hp2 | ACVRL1 | chr12 | 51902504 | 51928361 |
| 51920759 | + | 10 | 0.3112 | 0.3112 | 0.3112 | 0.0000 | donor | a0001c0001t0002g0078 | HG01175.hp2 | HG01175.hp2 | ACVRL1 | chr12 | 51902504 | 51928361 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 51913524:splice 51913524:variant goto | c.314-35A>G | 254710 | Benign | ACVRL1:94 | SO:0001627 intron_variant |
MONDO:MONDO:0010880 MedGen:C1838163 OMIM:600376 Orphanet:774|MedGen:C3661900|MedGen:CN169374 |
+ | 1 | 7 | 26 | 92 | a0001 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0005a0001c0001t0010others(21): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0030a0001c0001t0001g0032a0001c0001t0001g0033others(87): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(166): Show |
MODIFIER | chr12 | A | G | TogoVar |
| 51913361:splice 51913361:variant goto | c.313+11C>T | 136293 | Benign | ACVRL1:94 | SO:0001627 intron_variant |
MedGen:CN169374|MONDO:MONDO:0010880 MedGen:C1838163 OMIM:600376 Orphanet:774|MedGen:C3661900|MedGen:CN230736 |
+ | 1 | 7 | 25 | 90 | a0001 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0010a0001c0001t0019others(20): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0030a0001c0001t0001g0032a0001c0001t0001g0033others(85): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(164): Show |
MODIFIER | chr12 | C | T | TogoVar |
| 51912903:splice 51912903:variant goto | c.62-196C>G | 1226999 | Benign | ACVRL1:94 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 6 | 17 | 74 | a0001 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0010a0001c0001t0019others(12): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0030a0001c0001t0001g0032a0001c0001t0001g0033others(69): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(141): Show |
MODIFIER | chr12 | C | G | TogoVar |
| 51912002:splice 51912002:variant goto | c.-5-468C>T | 1271094 | Benign | ACVRL1:94 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 4 | 10 | 38 | 148 | a0001a0002a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(33): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0042others(143): Show | HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(332): Show |
MODIFIER | chr12 | C | T | TogoVar |
| 51914716:splice 51914716:variant goto | c.772+175_772+179dupAATTT | 1258247 | Benign | ACVRL1:94 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 3 | 7 | 19 | 84 | a0001a0002a0003 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(14): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0033a0001c0001t0001g0040a0001c0001t0001g0042others(79): Show | HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00544.hp1 HG00544.hp2 others(182): Show |
MODIFIER | chr12 | T | TTTTAA | TogoVar |
| 51922139:splice 51922139:variant goto | c.*1246T>C | 309467 | Benign | ACVRL1:94 | SO:0001624 3_prime_UTR_variant |
MedGen:C3661900|MONDO:MONDO:0010880 MedGen:C1838163 OMIM:600376 Orphanet:774 |
+ | 4 | 8 | 34 | 125 | a0001a0002a0003a0004 | a0001c0001a0001c0002a0001c0005a0001c0010a0001c0011others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(29): Show | a0001c0001t0002g0004a0001c0001t0002g0005a0001c0001t0002g0006a0001c0001t0002g0008a0001c0001t0002g0012others(120): Show | HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(291): Show |
MODIFIER | chr12 | T | C | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:51912002
|
c.-5-468C>T | White blood cell count | a0001a0002a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(33): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0042others(143): Show | HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(332): Show |
Leveraging Polygenic Functional Enrichment to Impr others(15): Show |
approximately 444,000 European ancestry individual others(2): Show |
ACVRL1 | rs1700159-? | + | MODIFIER | chr12 | C | T | |
|
chr12:51912002
|
c.-5-468C>T | Eczema | a0001a0002a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(33): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0042others(143): Show | HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(332): Show |
Leveraging Polygenic Functional Enrichment to Impr others(15): Show |
approximately 459,000 European ancestry individual others(2): Show |
ACVRL1 | rs1700159-? | + | MODIFIER | chr12 | C | T | |
|
chr12:51912002
|
c.-5-468C>T | Plateletcrit0.02877429 | a0001a0002a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(33): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0042others(143): Show | HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(332): Show |
The Allelic Landscape of Human Blood Cell Trait Va others(44): Show |
164,339 European ancestry individuals/ | ACVRL1 | ACVRL1 | rs1700159-T | + | MODIFIER | chr12 | C | T |
|
chr12:51912002
|
c.-5-468C>T | White blood cell count0.03278325 | a0001a0002a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(33): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0042others(143): Show | HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(332): Show |
The Allelic Landscape of Human Blood Cell Trait Va others(44): Show |
172,435 European ancestry individuals/ | ACVRL1 | ACVRL1 | rs1700159-T | + | MODIFIER | chr12 | C | T |
|
chr12:51912002
|
c.-5-468C>T | Monocyte count0.02582382 | a0001a0002a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(33): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0042others(143): Show | HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(332): Show |
The Allelic Landscape of Human Blood Cell Trait Va others(44): Show |
170,721 European ancestry individuals/ | ACVRL1 | ACVRL1 | rs1700159-T | + | MODIFIER | chr12 | C | T |
|
chr12:51912002
|
c.-5-468C>T | Myeloid white cell count0.03093112 | a0001a0002a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(33): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0042others(143): Show | HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(332): Show |
The Allelic Landscape of Human Blood Cell Trait Va others(44): Show |
169,219 European ancestry individuals/ | ACVRL1 | ACVRL1 | rs1700159-T | + | MODIFIER | chr12 | C | T |
|
chr12:51912002
|
c.-5-468C>T | Neutrophil count | a0001a0002a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(33): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0042others(143): Show | HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(332): Show |
Genetic determinants of blood-cell traits influenc others(59): Show |
234,802 European ancestry individuals/100,556 Euro others(25): Show |
ACVRL1 | rs1700159-C | + | MODIFIER | chr12 | C | T | |
|
chr12:51912002
|
c.-5-468C>T | Monocyte count | a0001a0002a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(33): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0042others(143): Show | HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(332): Show |
Genetic determinants of blood-cell traits influenc others(59): Show |
234,690 European ancestry individuals/100,494 Euro others(25): Show |
ACVRL1 | rs1700159-C | + | MODIFIER | chr12 | C | T | |
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chr12:51913524
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c.314-35A>G | Serine/threonine-protein kinase receptor R3 (analyte X16318.12) levelsothers(36): Show | a0001 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0005a0001c0001t0010others(21): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0030a0001c0001t0001g0032a0001c0001t0001g0033others(87): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(166): Show |
Proteogenomic analysis of human cerebrospinal flui others(103): Show |
2,721 European ancestry individuals/ | ACVRL1 | rs2071219-G | + | MODIFIER | chr12 | A | G | |
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chr12:51912002
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c.-5-468C>T | Monocyte count | a0001a0002a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(33): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0042others(143): Show | HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(332): Show |
Trans-ethnic and Ancestry-Specific Blood-Cell Gene others(54): Show |
639,696 African American or Afro-Caribbean, Africa others(116): Show |
NR | ACVRL1 | rs1700159-T | + | MODIFIER | chr12 | C | T |
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chr12:51912002
|
c.-5-468C>T | Monocyte count0.020438 | a0001a0002a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(33): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0042others(143): Show | HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(332): Show |
Trans-ethnic and Ancestry-Specific Blood-Cell Gene others(54): Show |
521,594 European ancestry individuals/ | NR | ACVRL1 | rs1700159-T | + | MODIFIER | chr12 | C | T |
|
chr12:51912002
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c.-5-468C>T | Lymphocyte count0.017172 | a0001a0002a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(33): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0042others(143): Show | HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(332): Show |
Trans-ethnic and Ancestry-Specific Blood-Cell Gene others(54): Show |
524,923 European ancestry individuals/ | NR | ACVRL1 | rs1700159-T | + | MODIFIER | chr12 | C | T |
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chr12:51912002
|
c.-5-468C>T | Lymphocyte count | a0001a0002a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(33): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0042others(143): Show | HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(332): Show |
Trans-ethnic and Ancestry-Specific Blood-Cell Gene others(54): Show |
643,370 African American or Afro-Caribbean, Africa others(116): Show |
NR | ACVRL1 | rs1700159-T | + | MODIFIER | chr12 | C | T |
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chr12:51922139
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c.*1246T>C | Mean platelet volume | a0001a0002a0003a0004 | a0001c0001a0001c0002a0001c0005a0001c0010a0001c0011others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(29): Show | a0001c0001t0002g0004a0001c0001t0002g0005a0001c0001t0002g0006a0001c0001t0002g0008a0001c0001t0002g0012others(120): Show | HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(291): Show |
Trans-ethnic and Ancestry-Specific Blood-Cell Gene others(54): Show |
484,042 African American or Afro-Caribbean, Africa others(116): Show |
NR | ACVRL1 | rs706819-T | + | MODIFIER | chr12 | T | C |
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chr12:51912002
|
c.-5-468C>T | Platelet count0.01569 | a0001a0002a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(33): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0042others(143): Show | HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(332): Show |
Trans-ethnic and Ancestry-Specific Blood-Cell Gene others(54): Show |
542,827 European ancestry individuals/ | NR | ACVRL1 | rs1700159-T | + | MODIFIER | chr12 | C | T |
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chr12:51922139
|
c.*1246T>C | Mean platelet volume0.016409 | a0001a0002a0003a0004 | a0001c0001a0001c0002a0001c0005a0001c0010a0001c0011others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(29): Show | a0001c0001t0002g0004a0001c0001t0002g0005a0001c0001t0002g0006a0001c0001t0002g0008a0001c0001t0002g0012others(120): Show | HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(291): Show |
Trans-ethnic and Ancestry-Specific Blood-Cell Gene others(54): Show |
460,935 European ancestry individuals/ | NR | ACVRL1 | rs706819-T | + | MODIFIER | chr12 | T | C |
|
chr12:51912002
|
c.-5-468C>T | Neutrophil count0.02158 | a0001a0002a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(33): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0042others(143): Show | HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(332): Show |
Trans-ethnic and Ancestry-Specific Blood-Cell Gene others(54): Show |
519,288 European ancestry individuals/ | NR | ACVRL1 | rs1700159-T | + | MODIFIER | chr12 | C | T |
|
chr12:51912002
|
c.-5-468C>T | Neutrophil count | a0001a0002a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(33): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0042others(143): Show | HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(332): Show |
Trans-ethnic and Ancestry-Specific Blood-Cell Gene others(54): Show |
627,215 African American or Afro-Caribbean, Africa others(116): Show |
NR | ACVRL1 | rs1700159-T | + | MODIFIER | chr12 | C | T |
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chr12:51912002
|
c.-5-468C>T | Platelet count | a0001a0002a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(33): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0042others(143): Show | HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(332): Show |
Trans-ethnic and Ancestry-Specific Blood-Cell Gene others(54): Show |
721,201 African American or Afro-Caribbean, Africa others(116): Show |
NR | ACVRL1 | rs1700159-T | + | MODIFIER | chr12 | C | T |
|
chr12:51912002
|
c.-5-468C>T | White blood cell count | a0001a0002a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(33): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0042others(143): Show | HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(332): Show |
Trans-ethnic and Ancestry-Specific Blood-Cell Gene others(54): Show |
746,667 African American or Afro-Caribbean, Africa others(116): Show |
NR | ACVRL1 | rs1700159-T | + | MODIFIER | chr12 | C | T |
|
chr12:51912002
|
c.-5-468C>T | White blood cell count0.02445 | a0001a0002a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(33): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0042others(143): Show | HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(332): Show |
Trans-ethnic and Ancestry-Specific Blood-Cell Gene others(54): Show |
562,243 European ancestry individuals/ | NR | ACVRL1 | rs1700159-T | + | MODIFIER | chr12 | C | T |
|
chr12:51912002
|
c.-5-468C>T | Monocyte count0.0158 | a0001a0002a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(33): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0042others(143): Show | HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(332): Show |
A cross-population atlas of genetic associations f others(24): Show |
349,856 European ancestry individuals, 95,119 East others(28): Show |
ACVRL1 | rs1700159-T | + | MODIFIER | chr12 | C | T | |
|
chr12:51912002
|
c.-5-468C>T | Neutrophil count0.020982396 | a0001a0002a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(33): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0042others(143): Show | HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(332): Show |
The Polygenic and Monogenic Basis of Blood Traits others(13): Show |
408,112 British individuals/ | ACVRL1 | ACVRL1 | rs1700159-T | + | MODIFIER | chr12 | C | T |
|
chr12:51912002
|
c.-5-468C>T | Monocyte count0.019132491 | a0001a0002a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(33): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0042others(143): Show | HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(332): Show |
The Polygenic and Monogenic Basis of Blood Traits others(13): Show |
408,112 British individuals/ | ACVRL1 | ACVRL1 | rs1700159-C | + | MODIFIER | chr12 | C | T |
|
chr12:51912002
|
c.-5-468C>T | White blood cell count0.024555305 | a0001a0002a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(33): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0042others(143): Show | HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(332): Show |
The Polygenic and Monogenic Basis of Blood Traits others(13): Show |
408,112 British individuals/ | ACVRL1 | ACVRL1 | rs1700159-T | + | MODIFIER | chr12 | C | T |
|
chr12:51912002
|
c.-5-468C>T | Platelet count0.017000787 | a0001a0002a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(33): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0042others(143): Show | HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(332): Show |
The Polygenic and Monogenic Basis of Blood Traits others(13): Show |
408,112 British individuals/ | ACVRL1 | ACVRL1 | rs1700159-T | + | MODIFIER | chr12 | C | T |
|
chr12:51912002
|
c.-5-468C>T | Plateletcrit0.02518572 | a0001a0002a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(33): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0042others(143): Show | HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(332): Show |
The Polygenic and Monogenic Basis of Blood Traits others(13): Show |
408,112 British individuals/ | ACVRL1 | ACVRL1 | rs1700159-T | + | MODIFIER | chr12 | C | T |
|
chr12:51912002
|
c.-5-468C>T | Lymphocyte count0.015135433 | a0001a0002a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(33): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0042others(143): Show | HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(332): Show |
The Polygenic and Monogenic Basis of Blood Traits others(13): Show |
408,112 British individuals/ | ACVRL1 | ACVRL1 | rs1700159-T | + | MODIFIER | chr12 | C | T |
|
chr12:51912002
|
c.-5-468C>T |
Monocyte count (UKB data field 30130)0.0 others(8): Show |
a0001a0002a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(33): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0042others(143): Show | HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(332): Show |
A scalable variational inference approach for incr others(36): Show |
394,642 European ancestry individuals/ | ACVRL1 | rs1700159-T | + | MODIFIER | chr12 | C | T |
