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rs9493627

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs9493627(A;A)
Make rs9493627(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position133468590
GeneEYA4, LOC107984121
is asnp
is mentioned by
dbSNPrs9493627
dbSNP (classic)rs9493627
ClinGenrs9493627
ebirs9493627
HLIrs9493627
Exacrs9493627
Gnomadrs9493627
Varsomers9493627
LitVarrs9493627
Maprs9493627
PheGenIrs9493627
Biobankrs9493627
1000 genomesrs9493627
hgdprs9493627
ensemblrs9493627
geneviewrs9493627
scholarrs9493627
googlers9493627
pharmgkbrs9493627
gwascentralrs9493627
openSNPrs9493627
23andMers9493627
SNPshotrs9493627
SNPdbers9493627
MSV3drs9493627
GWAS Ctlgrs9493627
GMAF0.3926
Max Magnitude0
? (A;A) (A;G) (G;G) 28




ClinVar
Risk rs9493627(A;A)
Alt rs9493627(A;A)
Reference Rs9493627(G;G)
Significance Probable-non-pathogenic
Disease not specified Cardiovascular phenotype Dilated Cardiomyopathy Nonsyndromic Hearing Loss
Variation info
Gene EYA4 LOC101928164
CLNDBN not specified Cardiovascular phenotype Dilated Cardiomyopathy, Dominant Nonsyndromic Hearing Loss, Dominant
Reversed 0
HGVS NC_000006.11:g.133789728G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000037882.4, RCV000247179.1, RCV000276894.1, RCV000332466.1,