rs387906674
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 5 | Partial protein-S deficiency; higher risk for blood clotting related issues |
Make rs387906674(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 93893025 |
Gene | PROS1 |
is a | snp |
is | mentioned by |
dbSNP | rs387906674 |
dbSNP (classic) | rs387906674 |
ClinGen | rs387906674 |
ebi | rs387906674 |
HLI | rs387906674 |
Exac | rs387906674 |
Gnomad | rs387906674 |
Varsome | rs387906674 |
LitVar | rs387906674 |
Map | rs387906674 |
PheGenI | rs387906674 |
Biobank | rs387906674 |
1000 genomes | rs387906674 |
hgdp | rs387906674 |
ensembl | rs387906674 |
geneview | rs387906674 |
scholar | rs387906674 |
rs387906674 | |
pharmgkb | rs387906674 |
gwascentral | rs387906674 |
openSNP | rs387906674 |
23andMe | rs387906674 |
SNPshot | rs387906674 |
SNPdbe | rs387906674 |
MSV3d | rs387906674 |
GWAS Ctlg | rs387906674 |
Max Magnitude | 5 |
aka c.1063C>T (p.Arg355Cys)
ClinVar | |
---|---|
Risk | rs387906674(T;T) |
Alt | rs387906674(T;T) |
Reference | Rs387906674(C;C) |
Significance | Pathogenic |
Disease | Protein S deficiency |
Variation | info |
Gene | PROS1 |
CLNDBN | Protein S deficiency |
Reversed | 1 |
HGVS | NC_000003.11:g.93611869G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000022724.25, |