rs28940879
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs28940879(A;A) |
Make rs28940879(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 89178117 |
Gene | LOC107984363, TYR |
is a | snp |
is | mentioned by |
dbSNP | rs28940879 |
dbSNP (classic) | rs28940879 |
ClinGen | rs28940879 |
ebi | rs28940879 |
HLI | rs28940879 |
Exac | rs28940879 |
Gnomad | rs28940879 |
Varsome | rs28940879 |
LitVar | rs28940879 |
Map | rs28940879 |
PheGenI | rs28940879 |
Biobank | rs28940879 |
1000 genomes | rs28940879 |
hgdp | rs28940879 |
ensembl | rs28940879 |
geneview | rs28940879 |
scholar | rs28940879 |
rs28940879 | |
pharmgkb | rs28940879 |
gwascentral | rs28940879 |
openSNP | rs28940879 |
23andMe | rs28940879 |
SNPshot | rs28940879 |
SNPdbe | rs28940879 |
MSV3d | rs28940879 |
GWAS Ctlg | rs28940879 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28940879(A;A) rs28940879(C;C) |
Alt | rs28940879(A;A) rs28940879(C;C) |
Reference | Rs28940879(G;G) |
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.88911285G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000003993.2, RCV000085930.1, |