rs267606981
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;T) | 5 | Partial protein-S deficiency; higher risk for blood clotting related issues |
Make rs267606981(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 93874245 |
Gene | PROS1 |
is a | snp |
is | mentioned by |
dbSNP | rs267606981 |
dbSNP (classic) | rs267606981 |
ClinGen | rs267606981 |
ebi | rs267606981 |
HLI | rs267606981 |
Exac | rs267606981 |
Gnomad | rs267606981 |
Varsome | rs267606981 |
LitVar | rs267606981 |
Map | rs267606981 |
PheGenI | rs267606981 |
Biobank | rs267606981 |
1000 genomes | rs267606981 |
hgdp | rs267606981 |
ensembl | rs267606981 |
geneview | rs267606981 |
scholar | rs267606981 |
rs267606981 | |
pharmgkb | rs267606981 |
gwascentral | rs267606981 |
openSNP | rs267606981 |
23andMe | rs267606981 |
SNPshot | rs267606981 |
SNPdbe | rs267606981 |
MSV3d | rs267606981 |
GWAS Ctlg | rs267606981 |
Max Magnitude | 5 |
aka c.2031A>T (p.Ter677Tyr)
ClinVar | |
---|---|
Risk | rs267606981(G;G) rs267606981(T;T) |
Alt | rs267606981(G;G) rs267606981(T;T) |
Reference | Rs267606981(A;A) |
Significance | Pathogenic |
Disease | Protein S deficiency |
Variation | info |
Gene | PROS1 |
CLNDBN | Protein S deficiency |
Reversed | 1 |
HGVS | NC_000003.11:g.93593089T>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000014248.25, |