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rs137852298

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852298(C;T)
Make rs137852298(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position9760811
GeneGPR143
is asnp
is mentioned by
dbSNPrs137852298
ClinGenrs137852298
ebirs137852298
HLIrs137852298
Exacrs137852298
Varsomers137852298
Maprs137852298
PheGenIrs137852298
hapmaprs137852298
1000 genomesrs137852298
hgdprs137852298
ensemblrs137852298
gopubmedrs137852298
geneviewrs137852298
scholarrs137852298
googlers137852298
pharmgkbrs137852298
gwascentralrs137852298
openSNPrs137852298
23andMers137852298
23andMe allrs137852298
SNP Nexus

SNPshotrs137852298
SNPdbers137852298
MSV3drs137852298
GWAS Ctlgrs137852298
Max Magnitude0
OMIM300808
Desc
Variant0009
Relatedalso
ClinVar
Risk rs137852298(T;T)
Alt rs137852298(T;T)
Reference Rs137852298(C;C)
Significance Pathogenic
Disease Nystagmus 6
Variation info
Gene GPR143
CLNDBN Nystagmus 6, congenital, X-linked
Reversed 1
HGVS NC_000023.10:g.9728851G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011268.7,