rs61753178
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs61753178(C;T) |
Make rs61753178(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 89178014 |
Gene | LOC107984363, TYR |
is a | snp |
is | mentioned by |
dbSNP | rs61753178 |
dbSNP (classic) | rs61753178 |
ClinGen | rs61753178 |
ebi | rs61753178 |
HLI | rs61753178 |
Exac | rs61753178 |
Gnomad | rs61753178 |
Varsome | rs61753178 |
LitVar | rs61753178 |
Map | rs61753178 |
PheGenI | rs61753178 |
Biobank | rs61753178 |
1000 genomes | rs61753178 |
hgdp | rs61753178 |
ensembl | rs61753178 |
geneview | rs61753178 |
scholar | rs61753178 |
rs61753178 | |
pharmgkb | rs61753178 |
gwascentral | rs61753178 |
openSNP | rs61753178 |
23andMe | rs61753178 |
SNPshot | rs61753178 |
SNPdbe | rs61753178 |
MSV3d | rs61753178 |
GWAS Ctlg | rs61753178 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61753178(T;T) |
Alt | rs61753178(T;T) |
Reference | Rs61753178(C;C) |
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.88911182C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000003996.2, RCV000085959.1, |