rs281865527
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs281865527(-;C) |
Make rs281865527(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 89191311 |
Gene | LOC107984363, TYR |
is a | snp |
is | mentioned by |
dbSNP | rs281865527 |
dbSNP (classic) | rs281865527 |
ClinGen | rs281865527 |
ebi | rs281865527 |
HLI | rs281865527 |
Exac | rs281865527 |
Gnomad | rs281865527 |
Varsome | rs281865527 |
LitVar | rs281865527 |
Map | rs281865527 |
PheGenI | rs281865527 |
Biobank | rs281865527 |
1000 genomes | rs281865527 |
hgdp | rs281865527 |
ensembl | rs281865527 |
geneview | rs281865527 |
scholar | rs281865527 |
rs281865527 | |
pharmgkb | rs281865527 |
gwascentral | rs281865527 |
openSNP | rs281865527 |
23andMe | rs281865527 |
SNPshot | rs281865527 |
SNPdbe | rs281865527 |
MSV3d | rs281865527 |
GWAS Ctlg | rs281865527 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281865527(C;C) |
Alt | rs281865527(C;C) |
Reference | Rs281865527(-;-) |
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.88924479dupC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003969.4, RCV000085980.1, |