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rs869312185

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869312185(C;G)
Make rs869312185(G;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position38287071
GeneRPGR
is asnp
is mentioned by
dbSNPrs869312185
dbSNP (classic)rs869312185
ClinGenrs869312185
ebirs869312185
HLIrs869312185
Exacrs869312185
Gnomadrs869312185
Varsomers869312185
LitVarrs869312185
Maprs869312185
PheGenIrs869312185
Biobankrs869312185
1000 genomesrs869312185
hgdprs869312185
ensemblrs869312185
geneviewrs869312185
scholarrs869312185
googlers869312185
pharmgkbrs869312185
gwascentralrs869312185
openSNPrs869312185
23andMers869312185
SNPshotrs869312185
SNPdbers869312185
MSV3drs869312185
GWAS Ctlgrs869312185
Max Magnitude0
ClinVar
Risk rs869312185(G;G)
Alt rs869312185(G;G)
Reference Rs869312185(C;C)
Significance Pathogenic
Disease Retinal dystrophy
Variation info
Gene RPGR
CLNDBN Retinal dystrophy
Reversed 1
HGVS NC_000023.10:g.38146324G>C
CLNSRC
CLNACC RCV000210316.1,