rs2229446
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs2229446(A;A) |
Make rs2229446(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 12 |
Position | 5993906 |
Gene | VWF |
is a | snp |
is | mentioned by |
dbSNP | rs2229446 |
dbSNP (classic) | rs2229446 |
ClinGen | rs2229446 |
ebi | rs2229446 |
HLI | rs2229446 |
Exac | rs2229446 |
Gnomad | rs2229446 |
Varsome | rs2229446 |
LitVar | rs2229446 |
Map | rs2229446 |
PheGenI | rs2229446 |
Biobank | rs2229446 |
1000 genomes | rs2229446 |
hgdp | rs2229446 |
ensembl | rs2229446 |
geneview | rs2229446 |
scholar | rs2229446 |
rs2229446 | |
pharmgkb | rs2229446 |
gwascentral | rs2229446 |
openSNP | rs2229446 |
23andMe | rs2229446 |
SNPshot | rs2229446 |
SNPdbe | rs2229446 |
MSV3d | rs2229446 |
GWAS Ctlg | rs2229446 |
Max Magnitude | 0 |
[PMID 25779970] Gene-centric approach identifies new and known loci for FVIII activity and VWF antigen levels in European Americans and African Americans
ClinVar | |
---|---|
Risk | rs2229446(A;A) |
Alt | rs2229446(A;A) |
Reference | Rs2229446(G;G) |
Significance | Probable-non-pathogenic |
Disease | not provided not specified von Willebrand disorder |
Variation | info |
Gene | VWF |
CLNDBN | not provided not specified von Willebrand disorder |
Reversed | 1 |
HGVS | NC_000012.11:g.6103072C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000086855.1, RCV000241790.1, RCV000401548.1, |