rs780296175
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs780296175(A;A) |
Make rs780296175(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 27871191 |
Gene | OCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs780296175 |
dbSNP (classic) | rs780296175 |
ClinGen | rs780296175 |
ebi | rs780296175 |
HLI | rs780296175 |
Exac | rs780296175 |
Gnomad | rs780296175 |
Varsome | rs780296175 |
LitVar | rs780296175 |
Map | rs780296175 |
PheGenI | rs780296175 |
Biobank | rs780296175 |
1000 genomes | rs780296175 |
hgdp | rs780296175 |
ensembl | rs780296175 |
geneview | rs780296175 |
scholar | rs780296175 |
rs780296175 | |
pharmgkb | rs780296175 |
gwascentral | rs780296175 |
openSNP | rs780296175 |
23andMe | rs780296175 |
SNPshot | rs780296175 |
SNPdbe | rs780296175 |
MSV3d | rs780296175 |
GWAS Ctlg | rs780296175 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs780296175(A;A) |
Alt | rs780296175(A;A) |
Reference | Rs780296175(G;G) |
Significance | Probable-Pathogenic |
Disease | not specified Tyrosinase-positive oculocutaneous albinism |
Variation | info |
Gene | OCA2 |
CLNDBN | not specified Tyrosinase-positive oculocutaneous albinism |
Reversed | 0 |
HGVS | NC_000015.9:g.28116337G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000176150.1, RCV000192656.1, |