rs62635018
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs62635018(A;A) |
Make rs62635018(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 9765714 |
Gene | GPR143 |
is a | snp |
is | mentioned by |
dbSNP | rs62635018 |
dbSNP (classic) | rs62635018 |
ClinGen | rs62635018 |
ebi | rs62635018 |
HLI | rs62635018 |
Exac | rs62635018 |
Gnomad | rs62635018 |
Varsome | rs62635018 |
LitVar | rs62635018 |
Map | rs62635018 |
PheGenI | rs62635018 |
Biobank | rs62635018 |
1000 genomes | rs62635018 |
hgdp | rs62635018 |
ensembl | rs62635018 |
geneview | rs62635018 |
scholar | rs62635018 |
rs62635018 | |
pharmgkb | rs62635018 |
gwascentral | rs62635018 |
openSNP | rs62635018 |
23andMe | rs62635018 |
SNPshot | rs62635018 |
SNPdbe | rs62635018 |
MSV3d | rs62635018 |
GWAS Ctlg | rs62635018 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs62635018(A;A) |
Alt | rs62635018(A;A) |
Reference | Rs62635018(G;G) |
Significance | Pathogenic |
Disease | Ocular albinism not provided |
Variation | info |
Gene | GPR143 |
CLNDBN | Ocular albinism, type I not provided |
Reversed | 1 |
HGVS | NC_000023.10:g.9733754C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000011267.2, RCV000084909.1, |