rs137854890
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs137854890(A;A) |
Make rs137854890(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 89178225 |
Gene | LOC107984363, TYR |
is a | snp |
is | mentioned by |
dbSNP | rs137854890 |
dbSNP (classic) | rs137854890 |
ClinGen | rs137854890 |
ebi | rs137854890 |
HLI | rs137854890 |
Exac | rs137854890 |
Gnomad | rs137854890 |
Varsome | rs137854890 |
LitVar | rs137854890 |
Map | rs137854890 |
PheGenI | rs137854890 |
Biobank | rs137854890 |
1000 genomes | rs137854890 |
hgdp | rs137854890 |
ensembl | rs137854890 |
geneview | rs137854890 |
scholar | rs137854890 |
rs137854890 | |
pharmgkb | rs137854890 |
gwascentral | rs137854890 |
openSNP | rs137854890 |
23andMe | rs137854890 |
SNPshot | rs137854890 |
SNPdbe | rs137854890 |
MSV3d | rs137854890 |
GWAS Ctlg | rs137854890 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137854890(A;A) |
Alt | rs137854890(A;A) |
Reference | Rs137854890(G;G) |
Significance | Pathogenic |
Disease | Tyrosinase-negative oculocutaneous albinism |
Variation | info |
Gene | TYR |
CLNDBN | Tyrosinase-negative oculocutaneous albinism |
Reversed | 0 |
HGVS | NC_000011.9:g.88911393G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000033111.2, |