rs61754380
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs61754380(C;C) |
Make rs61754380(C;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 89191364 |
Gene | LOC107984363, TYR |
is a | snp |
is | mentioned by |
dbSNP | rs61754380 |
dbSNP (classic) | rs61754380 |
ClinGen | rs61754380 |
ebi | rs61754380 |
HLI | rs61754380 |
Exac | rs61754380 |
Gnomad | rs61754380 |
Varsome | rs61754380 |
LitVar | rs61754380 |
Map | rs61754380 |
PheGenI | rs61754380 |
Biobank | rs61754380 |
1000 genomes | rs61754380 |
hgdp | rs61754380 |
ensembl | rs61754380 |
geneview | rs61754380 |
scholar | rs61754380 |
rs61754380 | |
pharmgkb | rs61754380 |
gwascentral | rs61754380 |
openSNP | rs61754380 |
23andMe | rs61754380 |
SNPshot | rs61754380 |
SNPdbe | rs61754380 |
MSV3d | rs61754380 |
GWAS Ctlg | rs61754380 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61754380(A;A) rs61754380(C;C) |
Alt | rs61754380(A;A) rs61754380(C;C) |
Reference | Rs61754380(G;G) |
Significance | Pathogenic |
Disease | Tyrosinase-negative oculocutaneous albinism not provided |
Variation | info |
Gene | TYR |
CLNDBN | Tyrosinase-negative oculocutaneous albinism not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.88924532G>A; NC_000011.9:g.88924532G>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000193486.1, RCV000085984.1, |