rs138925964
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common/normal |
(C;T) | 3 | 2-4x higher risk for venous thromboembolism (clots) |
(T;T) | 6 | Clotting issues likely in infants |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 3 |
Position | 93879279 |
Gene | PROS1 |
is a | snp |
is | mentioned by |
dbSNP | rs138925964 |
dbSNP (classic) | rs138925964 |
ClinGen | rs138925964 |
ebi | rs138925964 |
HLI | rs138925964 |
Exac | rs138925964 |
Gnomad | rs138925964 |
Varsome | rs138925964 |
LitVar | rs138925964 |
Map | rs138925964 |
PheGenI | rs138925964 |
Biobank | rs138925964 |
1000 genomes | rs138925964 |
hgdp | rs138925964 |
ensembl | rs138925964 |
geneview | rs138925964 |
scholar | rs138925964 |
rs138925964 | |
pharmgkb | rs138925964 |
gwascentral | rs138925964 |
openSNP | rs138925964 |
23andMe | rs138925964 |
SNPshot | rs138925964 |
SNPdbe | rs138925964 |
MSV3d | rs138925964 |
GWAS Ctlg | rs138925964 |
Max Magnitude | 6 |
rs138925964, also known as c.1528G>A, p.Val510Met and V510M, represents a fairly rare mutation in the PROS1 gene on chromosome 3.
Based on exome sequencing, a 2016 report concludes that the rs138925964(T) allele is an African-descent specific risk factor for venous thromboembolism, also known as VTE. Individuals carrying this allele are reported to be at 2 - 4 fold higher VTE risk.10.1002/mgg3.226
A news report about this finding and other ancestry-specific risk factors is here.
ClinVar | |
---|---|
Risk | rs138925964(G;G) Rs138925964(T;T) |
Alt | rs138925964(G;G) Rs138925964(T;T) |
Reference | Rs138925964(C;C) |
Significance | Other |
Disease | Protein S deficiency Thrombophilia due to protein S deficiency |
Variation | info |
Gene | PROS1 |
CLNDBN | Protein S deficiency Thrombophilia due to protein S deficiency, autosomal recessive |
Reversed | 0 |
HGVS | NC_000003.11:g.93598123C>T |
CLNSRC | Stanford University |
CLNACC | RCV000148749.2, RCV000458043.1, |