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rs267607019

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs267607019(AG;CT)
Make rs267607019(CT;CT)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38286151
GeneRPGR
is asnp
is mentioned by
dbSNPrs267607019
ebirs267607019
HLIrs267607019
Exacrs267607019
Varsomers267607019
Maprs267607019
PheGenIrs267607019
hapmaprs267607019
1000 genomesrs267607019
hgdprs267607019
ensemblrs267607019
gopubmedrs267607019
geneviewrs267607019
scholarrs267607019
googlers267607019
pharmgkbrs267607019
gwascentralrs267607019
openSNPrs267607019
23andMers267607019
23andMe allrs267607019
SNP Nexus

SNPshotrs267607019
SNPdbers267607019
MSV3drs267607019
GWAS Ctlgrs267607019
Max Magnitude0
ClinVar
Risk rs267607019(CT;CT)
Alt rs267607019(CT;CT)
Reference rs267607019(AG;AG)
Significance Pathogenic
Disease Cone-rod dystrophy
Variation info
Gene RPGR
CLNDBN Cone-rod dystrophy, X-linked 1
Reversed 1
HGVS NC_000023.10:g.38145404_38145405delCTinsAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000010595.2,