rs61754399
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(I;I) | 0 |
Make rs61754399(-;T) |
Make rs61754399(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 89295243 |
Gene | TYR |
is a | snp |
is | mentioned by |
dbSNP | rs61754399 |
dbSNP (classic) | rs61754399 |
ClinGen | rs61754399 |
ebi | rs61754399 |
HLI | rs61754399 |
Exac | rs61754399 |
Gnomad | rs61754399 |
Varsome | rs61754399 |
LitVar | rs61754399 |
Map | rs61754399 |
PheGenI | rs61754399 |
Biobank | rs61754399 |
1000 genomes | rs61754399 |
hgdp | rs61754399 |
ensembl | rs61754399 |
geneview | rs61754399 |
scholar | rs61754399 |
rs61754399 | |
pharmgkb | rs61754399 |
gwascentral | rs61754399 |
openSNP | rs61754399 |
23andMe | rs61754399 |
SNPshot | rs61754399 |
SNPdbe | rs61754399 |
MSV3d | rs61754399 |
GWAS Ctlg | rs61754399 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61754399(T;T) |
Alt | rs61754399(T;T) |
Reference | Rs61754399(-;-) |
Significance | Pathogenic |
Disease | Tyrosinase-negative oculocutaneous albinism not provided Oculocutaneous albinism type 1B |
Variation | info |
Gene | TYR |
CLNDBN | Tyrosinase-negative oculocutaneous albinism not provided Oculocutaneous albinism type 1B |
Reversed | 0 |
HGVS | NC_000011.9:g.89028411dupT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004007.3, RCV000085926.1, RCV000372748.1, |