rs863224838
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GG;T) | 5 | Partial protein-S deficiency; higher risk for blood clotting related issues |
(T;T) | 0 | common in clinvar |
Make rs863224838(GG;GG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 93893121 |
Gene | PROS1 |
is a | snp |
is | mentioned by |
dbSNP | rs863224838 |
dbSNP (classic) | rs863224838 |
ClinGen | rs863224838 |
ebi | rs863224838 |
HLI | rs863224838 |
Exac | rs863224838 |
Gnomad | rs863224838 |
Varsome | rs863224838 |
LitVar | rs863224838 |
Map | rs863224838 |
PheGenI | rs863224838 |
Biobank | rs863224838 |
1000 genomes | rs863224838 |
hgdp | rs863224838 |
ensembl | rs863224838 |
geneview | rs863224838 |
scholar | rs863224838 |
rs863224838 | |
pharmgkb | rs863224838 |
gwascentral | rs863224838 |
openSNP | rs863224838 |
23andMe | rs863224838 |
SNPshot | rs863224838 |
SNPdbe | rs863224838 |
MSV3d | rs863224838 |
GWAS Ctlg | rs863224838 |
Max Magnitude | 5 |
aka c.967delTinsGG (p.Phe323Glyfs)
ClinVar | |
---|---|
Risk | rs863224838(GG;GG) |
Alt | rs863224838(GG;GG) |
Reference | Rs863224838(T;T) |
Significance | Pathogenic |
Disease | Thrombophilia due to protein S deficiency |
Variation | info |
Gene | PROS1 |
CLNDBN | Thrombophilia due to protein S deficiency, autosomal recessive |
Reversed | 1 |
HGVS | NC_000003.11:g.93611965delAinsCC |
CLNSRC | |
CLNACC | RCV000197344.1, |