rs104894315
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs104894315(A;A) |
Make rs104894315(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 89227932 |
Gene | LOC107984363, TYR |
is a | snp |
is | mentioned by |
dbSNP | rs104894315 |
dbSNP (classic) | rs104894315 |
ClinGen | rs104894315 |
ebi | rs104894315 |
HLI | rs104894315 |
Exac | rs104894315 |
Gnomad | rs104894315 |
Varsome | rs104894315 |
LitVar | rs104894315 |
Map | rs104894315 |
PheGenI | rs104894315 |
Biobank | rs104894315 |
1000 genomes | rs104894315 |
hgdp | rs104894315 |
ensembl | rs104894315 |
geneview | rs104894315 |
scholar | rs104894315 |
rs104894315 | |
pharmgkb | rs104894315 |
gwascentral | rs104894315 |
openSNP | rs104894315 |
23andMe | rs104894315 |
SNPshot | rs104894315 |
SNPdbe | rs104894315 |
MSV3d | rs104894315 |
GWAS Ctlg | rs104894315 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894315(A;A) rs104894315(T;T) |
Alt | rs104894315(A;A) rs104894315(T;T) |
Reference | Rs104894315(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.88961100C>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000003989.2, RCV000085902.1, |