rs776174514
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs776174514(C;C) |
Make rs776174514(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 12704589 |
Gene | LURAP1L-AS1, TYRP1 |
is a | snp |
is | mentioned by |
dbSNP | rs776174514 |
dbSNP (classic) | rs776174514 |
ClinGen | rs776174514 |
ebi | rs776174514 |
HLI | rs776174514 |
Exac | rs776174514 |
Gnomad | rs776174514 |
Varsome | rs776174514 |
LitVar | rs776174514 |
Map | rs776174514 |
PheGenI | rs776174514 |
Biobank | rs776174514 |
1000 genomes | rs776174514 |
hgdp | rs776174514 |
ensembl | rs776174514 |
geneview | rs776174514 |
scholar | rs776174514 |
rs776174514 | |
pharmgkb | rs776174514 |
gwascentral | rs776174514 |
openSNP | rs776174514 |
23andMe | rs776174514 |
SNPshot | rs776174514 |
SNPdbe | rs776174514 |
MSV3d | rs776174514 |
GWAS Ctlg | rs776174514 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs776174514(C;C) |
Alt | rs776174514(C;C) |
Reference | Rs776174514(T;T) |
Significance | Probable-Pathogenic |
Disease | Oculocutaneous albinism type 3 |
Variation | info |
Gene | TYRP1 LURAP1L-AS1 |
CLNDBN | Oculocutaneous albinism type 3 |
Reversed | 0 |
HGVS | NC_000009.11:g.12704589T>C |
CLNSRC | |
CLNACC | RCV000192929.1, |