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rs771214648

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TC;TC) 0 common in clinvar
Make rs771214648(-;-)
Make rs771214648(-;TC)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position38285820
GeneRPGR
is asnp
is mentioned by
dbSNPrs771214648
dbSNP (classic)rs771214648
ClinGenrs771214648
ebirs771214648
HLIrs771214648
Exacrs771214648
Gnomadrs771214648
Varsomers771214648
LitVarrs771214648
Maprs771214648
PheGenIrs771214648
Biobankrs771214648
1000 genomesrs771214648
hgdprs771214648
ensemblrs771214648
geneviewrs771214648
scholarrs771214648
googlers771214648
pharmgkbrs771214648
gwascentralrs771214648
openSNPrs771214648
23andMers771214648
SNPshotrs771214648
SNPdbers771214648
MSV3drs771214648
GWAS Ctlgrs771214648
Max Magnitude0
ClinVar
Risk rs771214648(-;-)
Alt rs771214648(-;-)
Reference Rs771214648(TC;TC)
Significance Probable-Pathogenic
Disease Cone-rod dystrophy
Variation info
Gene RPGR
CLNDBN Cone-rod dystrophy, X-linked 1
Reversed 0
HGVS NC_000023.10:g.38145073_38145074delTC
CLNSRC
CLNACC RCV000198843.1,