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rs137852550

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852550(C;C)
Make rs137852550(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38317418
GeneRPGR
is asnp
is mentioned by
dbSNPrs137852550
ebirs137852550
HLIrs137852550
Exacrs137852550
Varsomers137852550
Maprs137852550
PheGenIrs137852550
hapmaprs137852550
1000 genomesrs137852550
hgdprs137852550
ensemblrs137852550
gopubmedrs137852550
geneviewrs137852550
scholarrs137852550
googlers137852550
pharmgkbrs137852550
gwascentralrs137852550
openSNPrs137852550
23andMers137852550
23andMe allrs137852550
SNP Nexus

SNPshotrs137852550
SNPdbers137852550
MSV3drs137852550
GWAS Ctlgrs137852550
Max Magnitude0
OMIM312610
Desc
Variant0020
Relatedalso
ClinVar
Risk rs137852550(C;C)
Alt rs137852550(C;C)
Reference rs137852550(G;G)
Significance Pathogenic
Disease Retinitis pigmentosa
Variation info
Gene RPGR
CLNDBN Retinitis pigmentosa, X-linked, and sinorespiratory infections, with deafness
Reversed 1
HGVS NC_000023.10:g.38176671C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010594.3,