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rs58933950

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs58933950(C;T)
Make rs58933950(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position9759332
GeneGPR143
is asnp
is mentioned by
dbSNPrs58933950
ebirs58933950
HLIrs58933950
Exacrs58933950
Varsomers58933950
Maprs58933950
PheGenIrs58933950
hapmaprs58933950
1000 genomesrs58933950
hgdprs58933950
ensemblrs58933950
gopubmedrs58933950
geneviewrs58933950
scholarrs58933950
googlers58933950
pharmgkbrs58933950
gwascentralrs58933950
openSNPrs58933950
23andMers58933950
23andMe allrs58933950
SNP Nexus

SNPshotrs58933950
SNPdbers58933950
MSV3drs58933950
GWAS Ctlgrs58933950
Max Magnitude0
OMIM300808
Desc
Variant0004
Relatedalso


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
CLNACC RCV000011263.2, RCV000084936.1,