rs58933950
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs58933950(C;T) |
Make rs58933950(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 9759332 |
Gene | GPR143 |
is a | snp |
is | mentioned by |
dbSNP | rs58933950 |
dbSNP (classic) | rs58933950 |
ClinGen | rs58933950 |
ebi | rs58933950 |
HLI | rs58933950 |
Exac | rs58933950 |
Gnomad | rs58933950 |
Varsome | rs58933950 |
LitVar | rs58933950 |
Map | rs58933950 |
PheGenI | rs58933950 |
Biobank | rs58933950 |
1000 genomes | rs58933950 |
hgdp | rs58933950 |
ensembl | rs58933950 |
geneview | rs58933950 |
scholar | rs58933950 |
rs58933950 | |
pharmgkb | rs58933950 |
gwascentral | rs58933950 |
openSNP | rs58933950 |
23andMe | rs58933950 |
SNPshot | rs58933950 |
SNPdbe | rs58933950 |
MSV3d | rs58933950 |
GWAS Ctlg | rs58933950 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs58933950(T;T) |
Alt | rs58933950(T;T) |
Reference | Rs58933950(C;C) |
Significance | Pathogenic |
Disease | Ocular albinism not provided |
Variation | info |
Gene | GPR143 |
CLNDBN | Ocular albinism, type I not provided |
Reversed | 0 |
HGVS | NC_000023.10:g.9727372C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000011263.2, RCV000084936.1, |