rs61754368
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GT;GT) | 0 | common in clinvar |
(I;I) | 0 | |
(T;T) | 0 | common in clinvar |
(TG;TG) | 0 | common in clinvar |
Make rs61754368(-;-) |
Make rs61754368(-;TG) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 89178683 |
Gene | LOC107984363, TYR |
is a | snp |
is | mentioned by |
dbSNP | rs61754368 |
dbSNP (classic) | rs61754368 |
ClinGen | rs61754368 |
ebi | rs61754368 |
HLI | rs61754368 |
Exac | rs61754368 |
Gnomad | rs61754368 |
Varsome | rs61754368 |
LitVar | rs61754368 |
Map | rs61754368 |
PheGenI | rs61754368 |
Biobank | rs61754368 |
1000 genomes | rs61754368 |
hgdp | rs61754368 |
ensembl | rs61754368 |
geneview | rs61754368 |
scholar | rs61754368 |
rs61754368 | |
pharmgkb | rs61754368 |
gwascentral | rs61754368 |
openSNP | rs61754368 |
23andMe | rs61754368 |
SNPshot | rs61754368 |
SNPdbe | rs61754368 |
MSV3d | rs61754368 |
GWAS Ctlg | rs61754368 |
Merged from | Rs606231140 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61754368(-;-) Rs61754368(GT;GT) |
Alt | rs61754368(-;-) Rs61754368(GT;GT) |
Reference | Rs61754368(TG;TG) |
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, |