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rs2269736

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs2269736(A;A)
Make rs2269736(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position129528683
GeneRHO
is asnp
is mentioned by
dbSNPrs2269736
dbSNP (classic)rs2269736
ClinGenrs2269736
ebirs2269736
HLIrs2269736
Exacrs2269736
Gnomadrs2269736
Varsomers2269736
LitVarrs2269736
Maprs2269736
PheGenIrs2269736
Biobankrs2269736
1000 genomesrs2269736
hgdprs2269736
ensemblrs2269736
geneviewrs2269736
scholarrs2269736
googlers2269736
pharmgkbrs2269736
gwascentralrs2269736
openSNPrs2269736
23andMers2269736
SNPshotrs2269736
SNPdbers2269736
MSV3drs2269736
GWAS Ctlgrs2269736
GMAF0.1717
Max Magnitude0
? (A;A) (A;G) (G;G) 28


[PMID 20555336] Linkage analysis and mutation screening of the rhodopsin gene in a Chinese Bai family with autosomal dominant retinitis pigmentosa


ClinVar
Risk rs2269736(A;A) rs2269736(C;C)
Alt rs2269736(A;A) rs2269736(C;C)
Reference Rs2269736(G;G)
Significance Non-pathogenic
Disease Retinitis Pigmentosa Congenital Stationary Night Blindness
Variation info
Gene RHO
CLNDBN Retinitis Pigmentosa, Dominant/Recessive Congenital Stationary Night Blindness, Dominant
Reversed 0
HGVS NC_000003.11:g.129247526G>A
CLNSRC
CLNACC RCV000272221.1, RCV000320268.1,