rs199469482
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs199469482(A;A) |
Make rs199469482(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 127421454 |
Gene | PROC |
is a | snp |
is | mentioned by |
dbSNP | rs199469482 |
dbSNP (classic) | rs199469482 |
ClinGen | rs199469482 |
ebi | rs199469482 |
HLI | rs199469482 |
Exac | rs199469482 |
Gnomad | rs199469482 |
Varsome | rs199469482 |
LitVar | rs199469482 |
Map | rs199469482 |
PheGenI | rs199469482 |
Biobank | rs199469482 |
1000 genomes | rs199469482 |
hgdp | rs199469482 |
ensembl | rs199469482 |
geneview | rs199469482 |
scholar | rs199469482 |
rs199469482 | |
pharmgkb | rs199469482 |
gwascentral | rs199469482 |
openSNP | rs199469482 |
23andMe | rs199469482 |
SNPshot | rs199469482 |
SNPdbe | rs199469482 |
MSV3d | rs199469482 |
GWAS Ctlg | rs199469482 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199469482(A;A) |
Alt | rs199469482(A;A) |
Reference | Rs199469482(G;G) |
Significance | Probable-Pathogenic |
Disease | Thrombophilia |
Variation | info |
Gene | PROC |
CLNDBN | Thrombophilia, hereditary, due to protein c deficiency, autosomal dominant |
Reversed | 0 |
HGVS | NC_000002.11:g.128179030G>A |
CLNSRC | |
CLNACC |