rs606231140
From SNPedia
Merged into | rs61754368 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GT;GT) | 0 | common in clinvar |
(T;T) | 0 | common in clinvar |
Make rs606231140(-;-) |
Make rs606231140(-;TG) |
Make rs606231140(TG;TG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 89178685 |
Gene | TYR |
is a | snp |
is | mentioned by |
dbSNP | rs606231140 |
dbSNP (classic) | rs606231140 |
ClinGen | rs606231140 |
ebi | rs606231140 |
HLI | rs606231140 |
Exac | rs606231140 |
Gnomad | rs606231140 |
Varsome | rs606231140 |
LitVar | rs606231140 |
Map | rs606231140 |
PheGenI | rs606231140 |
Biobank | rs606231140 |
1000 genomes | rs606231140 |
hgdp | rs606231140 |
ensembl | rs606231140 |
geneview | rs606231140 |
scholar | rs606231140 |
rs606231140 | |
pharmgkb | rs606231140 |
gwascentral | rs606231140 |
openSNP | rs606231140 |
23andMe | rs606231140 |
SNPshot | rs606231140 |
SNPdbe | rs606231140 |
MSV3d | rs606231140 |
GWAS Ctlg | rs606231140 |
Status | Merged into rs61754368 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs606231140(TACAGCACA;TACAGCACA) rs606231140(TTG;TTG) |
Alt | rs606231140(TACAGCACA;TACAGCACA) rs606231140(TTG;TTG) |
Reference | Rs606231140(GT;GT) |
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.88911853_88911854delTG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003990.2, RCV000085968.1, |