rs72547528
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs72547528(C;T) |
Make rs72547528(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 31091334 |
Gene | PRSS53, VKORC1 |
is a | snp |
is | mentioned by |
dbSNP | rs72547528 |
dbSNP (classic) | rs72547528 |
ClinGen | rs72547528 |
ebi | rs72547528 |
HLI | rs72547528 |
Exac | rs72547528 |
Gnomad | rs72547528 |
Varsome | rs72547528 |
LitVar | rs72547528 |
Map | rs72547528 |
PheGenI | rs72547528 |
Biobank | rs72547528 |
1000 genomes | rs72547528 |
hgdp | rs72547528 |
ensembl | rs72547528 |
geneview | rs72547528 |
scholar | rs72547528 |
rs72547528 | |
pharmgkb | rs72547528 |
gwascentral | rs72547528 |
openSNP | rs72547528 |
23andMe | rs72547528 |
SNPshot | rs72547528 |
SNPdbe | rs72547528 |
MSV3d | rs72547528 |
GWAS Ctlg | rs72547528 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs72547528(G;G) rs72547528(T;T) |
Alt | rs72547528(G;G) rs72547528(T;T) |
Reference | Rs72547528(C;C) |
Significance | Pathogenic |
Disease | Vitamin k-dependent clotting factors |
Variation | info |
Gene | VKORC1 |
CLNDBN | Vitamin k-dependent clotting factors, combined deficiency of, 2 |
Reversed | 1 |
HGVS | NC_000016.9:g.31102655G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000002290.2, |