rs151206295
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs151206295(C;T) |
Make rs151206295(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 89227850 |
Gene | LOC107984363, TYR |
is a | snp |
is | mentioned by |
dbSNP | rs151206295 |
dbSNP (classic) | rs151206295 |
ClinGen | rs151206295 |
ebi | rs151206295 |
HLI | rs151206295 |
Exac | rs151206295 |
Gnomad | rs151206295 |
Varsome | rs151206295 |
LitVar | rs151206295 |
Map | rs151206295 |
PheGenI | rs151206295 |
Biobank | rs151206295 |
1000 genomes | rs151206295 |
hgdp | rs151206295 |
ensembl | rs151206295 |
geneview | rs151206295 |
scholar | rs151206295 |
rs151206295 | |
pharmgkb | rs151206295 |
gwascentral | rs151206295 |
openSNP | rs151206295 |
23andMe | rs151206295 |
SNPshot | rs151206295 |
SNPdbe | rs151206295 |
MSV3d | rs151206295 |
GWAS Ctlg | rs151206295 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs151206295(G;G) rs151206295(T;T) |
Alt | rs151206295(G;G) rs151206295(T;T) |
Reference | Rs151206295(C;C) |
Significance | Pathogenic |
Disease | Tyrosinase-negative oculocutaneous albinism |
Variation | info |
Gene | TYR |
CLNDBN | Tyrosinase-negative oculocutaneous albinism |
Reversed | 0 |
HGVS | NC_000011.9:g.88961018C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000195157.1, |