rs367543066
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs367543066(C;G) |
Make rs367543066(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 89178504 |
Gene | LOC107984363, TYR |
is a | snp |
is | mentioned by |
dbSNP | rs367543066 |
dbSNP (classic) | rs367543066 |
ClinGen | rs367543066 |
ebi | rs367543066 |
HLI | rs367543066 |
Exac | rs367543066 |
Gnomad | rs367543066 |
Varsome | rs367543066 |
LitVar | rs367543066 |
Map | rs367543066 |
PheGenI | rs367543066 |
Biobank | rs367543066 |
1000 genomes | rs367543066 |
hgdp | rs367543066 |
ensembl | rs367543066 |
geneview | rs367543066 |
scholar | rs367543066 |
rs367543066 | |
pharmgkb | rs367543066 |
gwascentral | rs367543066 |
openSNP | rs367543066 |
23andMe | rs367543066 |
SNPshot | rs367543066 |
SNPdbe | rs367543066 |
MSV3d | rs367543066 |
GWAS Ctlg | rs367543066 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs367543066(G;G) rs367543066(T;T) |
Alt | rs367543066(G;G) rs367543066(T;T) |
Reference | Rs367543066(C;C) |
Significance | Probable-Pathogenic |
Disease | Oculocutaneous albinism type 1B Tyrosinase-negative oculocutaneous albinism |
Variation | info |
Gene | TYR |
CLNDBN | Oculocutaneous albinism type 1B Tyrosinase-negative oculocutaneous albinism |
Reversed | 0 |
HGVS | NC_000011.9:g.88911672C>G |
CLNSRC | ClinVar |
CLNACC | RCV000133602.1, |