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rs137852551

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852551(G;T)
Make rs137852551(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38286070
GeneRPGR
is asnp
is mentioned by
dbSNPrs137852551
ebirs137852551
HLIrs137852551
Exacrs137852551
Varsomers137852551
Maprs137852551
PheGenIrs137852551
hapmaprs137852551
1000 genomesrs137852551
hgdprs137852551
ensemblrs137852551
gopubmedrs137852551
geneviewrs137852551
scholarrs137852551
googlers137852551
pharmgkbrs137852551
gwascentralrs137852551
openSNPrs137852551
23andMers137852551
23andMe allrs137852551
SNP Nexus

SNPshotrs137852551
SNPdbers137852551
MSV3drs137852551
GWAS Ctlgrs137852551
Max Magnitude0
OMIM312610
Desc
Variant0022
Relatedalso
ClinVar
Risk rs137852551(T;T)
Alt rs137852551(T;T)
Reference rs137852551(G;G)
Significance Pathogenic
Disease Cone-rod dystrophy
Variation info
Gene RPGR
CLNDBN Cone-rod dystrophy, X-linked 1
Reversed 1
HGVS NC_000023.10:g.38145323C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010596.4,