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rs606231181

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs606231181(-;-)
Make rs606231181(-;AG)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position38285906
GeneRPGR
is asnp
is mentioned by
dbSNPrs606231181
dbSNP (classic)rs606231181
ClinGenrs606231181
ebirs606231181
HLIrs606231181
Exacrs606231181
Gnomadrs606231181
Varsomers606231181
LitVarrs606231181
Maprs606231181
PheGenIrs606231181
Biobankrs606231181
1000 genomesrs606231181
hgdprs606231181
ensemblrs606231181
geneviewrs606231181
scholarrs606231181
googlers606231181
pharmgkbrs606231181
gwascentralrs606231181
openSNPrs606231181
23andMers606231181
SNPshotrs606231181
SNPdbers606231181
MSV3drs606231181
GWAS Ctlgrs606231181
Max Magnitude0
ClinVar
Risk rs606231181(-;-)
Alt rs606231181(-;-)
Reference Rs606231181(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.38145159_38145160delCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000010589.5,