rs121908011
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121908011(A;A) |
Make rs121908011(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 89227933 |
Gene | LOC107984363, TYR |
is a | snp |
is | mentioned by |
dbSNP | rs121908011 |
dbSNP (classic) | rs121908011 |
ClinGen | rs121908011 |
ebi | rs121908011 |
HLI | rs121908011 |
Exac | rs121908011 |
Gnomad | rs121908011 |
Varsome | rs121908011 |
LitVar | rs121908011 |
Map | rs121908011 |
PheGenI | rs121908011 |
Biobank | rs121908011 |
1000 genomes | rs121908011 |
hgdp | rs121908011 |
ensembl | rs121908011 |
geneview | rs121908011 |
scholar | rs121908011 |
rs121908011 | |
pharmgkb | rs121908011 |
gwascentral | rs121908011 |
openSNP | rs121908011 |
23andMe | rs121908011 |
SNPshot | rs121908011 |
SNPdbe | rs121908011 |
MSV3d | rs121908011 |
GWAS Ctlg | rs121908011 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908011(A;A) |
Alt | rs121908011(A;A) |
Reference | Rs121908011(G;G) |
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.88961101G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000003974.2, RCV000085903.1, RCV000177051.1, |