rs61753180
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs61753180(A;A) |
Make rs61753180(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 89178093 |
Gene | LOC107984363, TYR |
is a | snp |
is | mentioned by |
dbSNP | rs61753180 |
dbSNP (classic) | rs61753180 |
ClinGen | rs61753180 |
ebi | rs61753180 |
HLI | rs61753180 |
Exac | rs61753180 |
Gnomad | rs61753180 |
Varsome | rs61753180 |
LitVar | rs61753180 |
Map | rs61753180 |
PheGenI | rs61753180 |
Biobank | rs61753180 |
1000 genomes | rs61753180 |
hgdp | rs61753180 |
ensembl | rs61753180 |
geneview | rs61753180 |
scholar | rs61753180 |
rs61753180 | |
pharmgkb | rs61753180 |
gwascentral | rs61753180 |
openSNP | rs61753180 |
23andMe | rs61753180 |
SNPshot | rs61753180 |
SNPdbe | rs61753180 |
MSV3d | rs61753180 |
GWAS Ctlg | rs61753180 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61753180(A;A) |
Alt | rs61753180(A;A) |
Reference | Rs61753180(G;G) |
Significance | Pathogenic |
Disease | Tyrosinase-negative oculocutaneous albinism Oculocutaneous albinism type 1B not provided |
Variation | info |
Gene | TYR |
CLNDBN | Tyrosinase-negative oculocutaneous albinism Oculocutaneous albinism type 1B not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.88911261G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000003997.2, RCV000003998.2, RCV000085925.2, |