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rs527236070

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs527236070(-;TGCA)
Make rs527236070(TGCA;TGCA)
ReferenceGRCh38 38.1/142
Chromosome6
Position63721651
GeneEYS
is asnp
is mentioned by
dbSNPrs527236070
dbSNP (classic)rs527236070
ClinGenrs527236070
ebirs527236070
HLIrs527236070
Exacrs527236070
Gnomadrs527236070
Varsomers527236070
LitVarrs527236070
Maprs527236070
PheGenIrs527236070
Biobankrs527236070
1000 genomesrs527236070
hgdprs527236070
ensemblrs527236070
geneviewrs527236070
scholarrs527236070
googlers527236070
pharmgkbrs527236070
gwascentralrs527236070
openSNPrs527236070
23andMers527236070
SNPshotrs527236070
SNPdbers527236070
MSV3drs527236070
GWAS Ctlgrs527236070
Max Magnitude0
ClinVar
Risk rs527236070(TGCA;TGCA)
Alt rs527236070(TGCA;TGCA)
Reference Rs527236070(-;-)
Significance Probable-Pathogenic
Disease Retinitis pigmentosa
Variation info
Gene EYS
CLNDBN Retinitis pigmentosa
Reversed 1
HGVS NC_000006.11:g.64431547_64431548insTGCA
CLNSRC ClinVar
CLNACC RCV000132635.1,