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rs527236058

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs527236058(-;-)
Make rs527236058(-;G)
ReferenceGRCh38 38.1/142
Chromosome4
Position47951398
GeneCNGA1, LOC101927157
is asnp
is mentioned by
dbSNPrs527236058
dbSNP (classic)rs527236058
ClinGenrs527236058
ebirs527236058
HLIrs527236058
Exacrs527236058
Gnomadrs527236058
Varsomers527236058
LitVarrs527236058
Maprs527236058
PheGenIrs527236058
Biobankrs527236058
1000 genomesrs527236058
hgdprs527236058
ensemblrs527236058
geneviewrs527236058
scholarrs527236058
googlers527236058
pharmgkbrs527236058
gwascentralrs527236058
openSNPrs527236058
23andMers527236058
SNPshotrs527236058
SNPdbers527236058
MSV3drs527236058
GWAS Ctlgrs527236058
Max Magnitude0
ClinVar
Risk rs527236058(-;-)
Alt rs527236058(-;-)
Reference Rs527236058(G;G)
Significance Pathogenic
Disease Retinitis pigmentosa Retinitis pigmentosa 49
Variation info
Gene CNGA1 LOC101927157
CLNDBN Retinitis pigmentosa Retinitis pigmentosa 49
Reversed 1
HGVS NC_000004.11:g.47953415delC
CLNSRC ClinVar
CLNACC RCV000132620.1, RCV000490404.1,