rs121918474
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 5 | Partial protein-S deficiency; higher risk for blood clotting related issues |
Make rs121918474(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 93905799 |
Gene | PROS1 |
is a | snp |
is | mentioned by |
dbSNP | rs121918474 |
dbSNP (classic) | rs121918474 |
ClinGen | rs121918474 |
ebi | rs121918474 |
HLI | rs121918474 |
Exac | rs121918474 |
Gnomad | rs121918474 |
Varsome | rs121918474 |
LitVar | rs121918474 |
Map | rs121918474 |
PheGenI | rs121918474 |
Biobank | rs121918474 |
1000 genomes | rs121918474 |
hgdp | rs121918474 |
ensembl | rs121918474 |
geneview | rs121918474 |
scholar | rs121918474 |
rs121918474 | |
pharmgkb | rs121918474 |
gwascentral | rs121918474 |
openSNP | rs121918474 |
23andMe | rs121918474 |
SNPshot | rs121918474 |
SNPdbe | rs121918474 |
MSV3d | rs121918474 |
GWAS Ctlg | rs121918474 |
GMAF | 0.0004591 |
Max Magnitude | 5 |
aka c.586A>G (p.Lys196Glu)
23andMe name: i5005056
ClinVar | |
---|---|
Risk | rs121918474(G;G) |
Alt | rs121918474(G;G) |
Reference | Rs121918474(A;A) |
Significance | Pathogenic |
Disease | Protein S deficiency |
Variation | info |
Gene | PROS1 |
CLNDBN | Protein S deficiency |
Reversed | 1 |
HGVS | NC_000003.11:g.93624643T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000014246.27, |