rs63159160
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs63159160(C;T) |
Make rs63159160(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 89178602 |
Gene | LOC107984363, TYR |
is a | snp |
is | mentioned by |
dbSNP | rs63159160 |
dbSNP (classic) | rs63159160 |
ClinGen | rs63159160 |
ebi | rs63159160 |
HLI | rs63159160 |
Exac | rs63159160 |
Gnomad | rs63159160 |
Varsome | rs63159160 |
LitVar | rs63159160 |
Map | rs63159160 |
PheGenI | rs63159160 |
Biobank | rs63159160 |
1000 genomes | rs63159160 |
hgdp | rs63159160 |
ensembl | rs63159160 |
geneview | rs63159160 |
scholar | rs63159160 |
rs63159160 | |
pharmgkb | rs63159160 |
gwascentral | rs63159160 |
openSNP | rs63159160 |
23andMe | rs63159160 |
SNPshot | rs63159160 |
SNPdbe | rs63159160 |
MSV3d | rs63159160 |
GWAS Ctlg | rs63159160 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs63159160(G;G) rs63159160(T;T) |
Alt | rs63159160(G;G) rs63159160(T;T) |
Reference | Rs63159160(C;C) |
Significance | Pathogenic |
Disease | not provided Tyrosinase-negative oculocutaneous albinism |
Variation | info |
Gene | TYR |
CLNDBN | not provided Tyrosinase-negative oculocutaneous albinism |
Reversed | 0 |
HGVS | NC_000011.9:g.88911770C>G; NC_000011.9:g.88911770C>T |
CLNSRC | UniProtKB (protein) OMIM Allelic Variant |
CLNACC | RCV000085961.1, RCV000003999.2, RCV000085962.1, |