rs368074804
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 5 | Partial protein-S deficiency; higher risk for blood clotting related issues |
Make rs368074804(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 93898570 |
Gene | PROS1 |
is a | snp |
is | mentioned by |
dbSNP | rs368074804 |
dbSNP (classic) | rs368074804 |
ClinGen | rs368074804 |
ebi | rs368074804 |
HLI | rs368074804 |
Exac | rs368074804 |
Gnomad | rs368074804 |
Varsome | rs368074804 |
LitVar | rs368074804 |
Map | rs368074804 |
PheGenI | rs368074804 |
Biobank | rs368074804 |
1000 genomes | rs368074804 |
hgdp | rs368074804 |
ensembl | rs368074804 |
geneview | rs368074804 |
scholar | rs368074804 |
rs368074804 | |
pharmgkb | rs368074804 |
gwascentral | rs368074804 |
openSNP | rs368074804 |
23andMe | rs368074804 |
SNPshot | rs368074804 |
SNPdbe | rs368074804 |
MSV3d | rs368074804 |
GWAS Ctlg | rs368074804 |
Max Magnitude | 5 |
aka c.728-1G>A
ClinVar | |
---|---|
Risk | rs368074804(A;A) rs368074804(T;T) |
Alt | rs368074804(A;A) rs368074804(T;T) |
Reference | Rs368074804(C;C) |
Significance | Probable-Pathogenic |
Disease | Protein S deficiency |
Variation | info |
Gene | PROS1 |
CLNDBN | Protein S deficiency |
Reversed | 0 |
HGVS | NC_000003.11:g.93617414C>T |
CLNSRC | |
CLNACC | RCV000149896.2, |