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rs606231180

From SNPedia

Orientationminus
Geno Mag Summary
(GG;GG) 0 common in clinvar
Make rs606231180(-;-)
Make rs606231180(-;GG)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position38285902
GeneRPGR
is asnp
is mentioned by
dbSNPrs606231180
ebirs606231180
HLIrs606231180
Exacrs606231180
Varsomers606231180
Maprs606231180
PheGenIrs606231180
hapmaprs606231180
1000 genomesrs606231180
hgdprs606231180
ensemblrs606231180
gopubmedrs606231180
geneviewrs606231180
scholarrs606231180
googlers606231180
pharmgkbrs606231180
gwascentralrs606231180
openSNPrs606231180
23andMers606231180
23andMe allrs606231180
SNP Nexus

SNPshotrs606231180
SNPdbers606231180
MSV3drs606231180
GWAS Ctlgrs606231180
Max Magnitude0
ClinVar
Risk rs606231180(;)
Alt rs606231180(;)
Reference rs606231180(GG;GG)
Significance Pathogenic
Disease Cone-rod dystrophy
Variation info
Gene RPGR
CLNDBN Cone-rod dystrophy, X-linked 1
Reversed 1
HGVS NC_000023.10:g.38145155_38145156delCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000010588.4,