rs796051880
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs796051880(C;T) |
Make rs796051880(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 89191284 |
Gene | LOC107984363, TYR |
is a | snp |
is | mentioned by |
dbSNP | rs796051880 |
dbSNP (classic) | rs796051880 |
ClinGen | rs796051880 |
ebi | rs796051880 |
HLI | rs796051880 |
Exac | rs796051880 |
Gnomad | rs796051880 |
Varsome | rs796051880 |
LitVar | rs796051880 |
Map | rs796051880 |
PheGenI | rs796051880 |
Biobank | rs796051880 |
1000 genomes | rs796051880 |
hgdp | rs796051880 |
ensembl | rs796051880 |
geneview | rs796051880 |
scholar | rs796051880 |
rs796051880 | |
pharmgkb | rs796051880 |
gwascentral | rs796051880 |
openSNP | rs796051880 |
23andMe | rs796051880 |
SNPshot | rs796051880 |
SNPdbe | rs796051880 |
MSV3d | rs796051880 |
GWAS Ctlg | rs796051880 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796051880(T;T) |
Alt | rs796051880(T;T) |
Reference | Rs796051880(C;C) |
Significance | Probable-Pathogenic |
Disease | Oculocutaneous albinism type 1 |
Variation | info |
Gene | TYR |
CLNDBN | Oculocutaneous albinism type 1 |
Reversed | 0 |
HGVS | NC_000011.9:g.88924452C>T |
CLNSRC | |
CLNACC | RCV000186574.1, |