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rs137852296

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852296(C;C)
Make rs137852296(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position9759390
GeneGPR143
is asnp
is mentioned by
dbSNPrs137852296
ebirs137852296
HLIrs137852296
Exacrs137852296
Varsomers137852296
Maprs137852296
PheGenIrs137852296
hapmaprs137852296
1000 genomesrs137852296
hgdprs137852296
ensemblrs137852296
gopubmedrs137852296
geneviewrs137852296
scholarrs137852296
googlers137852296
pharmgkbrs137852296
gwascentralrs137852296
openSNPrs137852296
23andMers137852296
23andMe allrs137852296
SNP Nexus

SNPshotrs137852296
SNPdbers137852296
MSV3drs137852296
GWAS Ctlgrs137852296
Max Magnitude0
OMIM300808
Desc
Variant0003
Relatedalso
OMIM300808
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137852296(A,C;A,C)
Alt rs137852296(A,C;A,C)
Reference rs137852296(T;T)
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.9727430A>G; NC_000023.10:g.9727430A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011262.7, RCV000084931.1, RCV000011265.4, RCV000084930.1,