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rs527236074

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs527236074(C;T)
Make rs527236074(T;T)
ReferenceGRCh38 38.1/142
Chromosome6
Position64590853
GeneEYS
is asnp
is mentioned by
dbSNPrs527236074
dbSNP (classic)rs527236074
ClinGenrs527236074
ebirs527236074
HLIrs527236074
Exacrs527236074
Gnomadrs527236074
Varsomers527236074
LitVarrs527236074
Maprs527236074
PheGenIrs527236074
Biobankrs527236074
1000 genomesrs527236074
hgdprs527236074
ensemblrs527236074
geneviewrs527236074
scholarrs527236074
googlers527236074
pharmgkbrs527236074
gwascentralrs527236074
openSNPrs527236074
23andMers527236074
SNPshotrs527236074
SNPdbers527236074
MSV3drs527236074
GWAS Ctlgrs527236074
Max Magnitude0
ClinVar
Risk rs527236074(T;T)
Alt rs527236074(T;T)
Reference Rs527236074(C;C)
Significance Probable-Pathogenic
Disease Retinitis pigmentosa
Variation info
Gene EYS
CLNDBN Retinitis pigmentosa
Reversed 1
HGVS NC_000006.11:g.65300746G>A
CLNSRC ClinVar
CLNACC RCV000132627.1,