rs61754393
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | |
(G;G) | 0 | common in clinvar |
Make rs61754393(A;A) |
Make rs61754393(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 89284853 |
Gene | LOC107984363, TYR |
is a | snp |
is | mentioned by |
dbSNP | rs61754393 |
dbSNP (classic) | rs61754393 |
ClinGen | rs61754393 |
ebi | rs61754393 |
HLI | rs61754393 |
Exac | rs61754393 |
Gnomad | rs61754393 |
Varsome | rs61754393 |
LitVar | rs61754393 |
Map | rs61754393 |
PheGenI | rs61754393 |
Biobank | rs61754393 |
1000 genomes | rs61754393 |
hgdp | rs61754393 |
ensembl | rs61754393 |
geneview | rs61754393 |
scholar | rs61754393 |
rs61754393 | |
pharmgkb | rs61754393 |
gwascentral | rs61754393 |
openSNP | rs61754393 |
23andMe | rs61754393 |
SNPshot | rs61754393 |
SNPdbe | rs61754393 |
MSV3d | rs61754393 |
GWAS Ctlg | rs61754393 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61754393(A;A) rs61754393(T;T) |
Alt | rs61754393(A;A) rs61754393(T;T) |
Reference | Rs61754393(G;G) |
Significance | Pathogenic |
Disease | Oculocutaneous albinism type 1 not provided |
Variation | info |
Gene | TYR |
CLNDBN | Oculocutaneous albinism type 1, temperature sensitive not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.89018021G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000003985.2, RCV000085916.1, |