rs758115945
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs758115945(A;A) |
Make rs758115945(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 89178614 |
Gene | LOC107984363, TYR |
is a | snp |
is | mentioned by |
dbSNP | rs758115945 |
dbSNP (classic) | rs758115945 |
ClinGen | rs758115945 |
ebi | rs758115945 |
HLI | rs758115945 |
Exac | rs758115945 |
Gnomad | rs758115945 |
Varsome | rs758115945 |
LitVar | rs758115945 |
Map | rs758115945 |
PheGenI | rs758115945 |
Biobank | rs758115945 |
1000 genomes | rs758115945 |
hgdp | rs758115945 |
ensembl | rs758115945 |
geneview | rs758115945 |
scholar | rs758115945 |
rs758115945 | |
pharmgkb | rs758115945 |
gwascentral | rs758115945 |
openSNP | rs758115945 |
23andMe | rs758115945 |
SNPshot | rs758115945 |
SNPdbe | rs758115945 |
MSV3d | rs758115945 |
GWAS Ctlg | rs758115945 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs758115945(A;A) |
Alt | rs758115945(A;A) |
Reference | Rs758115945(G;G) |
Significance | Pathogenic |
Disease | Tyrosinase-negative oculocutaneous albinism |
Variation | info |
Gene | TYR |
CLNDBN | Tyrosinase-negative oculocutaneous albinism |
Reversed | 0 |
HGVS | NC_000011.9:g.88911782G>A |
CLNSRC | |
CLNACC | RCV000193793.1, |