rs763819379
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs763819379(C;C) |
Make rs763819379(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 27983421 |
Gene | OCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs763819379 |
dbSNP (classic) | rs763819379 |
ClinGen | rs763819379 |
ebi | rs763819379 |
HLI | rs763819379 |
Exac | rs763819379 |
Gnomad | rs763819379 |
Varsome | rs763819379 |
LitVar | rs763819379 |
Map | rs763819379 |
PheGenI | rs763819379 |
Biobank | rs763819379 |
1000 genomes | rs763819379 |
hgdp | rs763819379 |
ensembl | rs763819379 |
geneview | rs763819379 |
scholar | rs763819379 |
rs763819379 | |
pharmgkb | rs763819379 |
gwascentral | rs763819379 |
openSNP | rs763819379 |
23andMe | rs763819379 |
SNPshot | rs763819379 |
SNPdbe | rs763819379 |
MSV3d | rs763819379 |
GWAS Ctlg | rs763819379 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs763819379(C;C) |
Alt | rs763819379(C;C) |
Reference | Rs763819379(T;T) |
Significance | Pathogenic |
Disease | Tyrosinase-positive oculocutaneous albinism |
Variation | info |
Gene | OCA2 |
CLNDBN | Tyrosinase-positive oculocutaneous albinism |
Reversed | 0 |
HGVS | NC_000015.9:g.28228567T>C |
CLNSRC | |
CLNACC | RCV000192364.1, |