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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, KRT8P21
is asnp
is mentioned by
dbSNPrs9493627
ebirs9493627
HLIrs9493627
Exacrs9493627
Varsomers9493627
Maprs9493627
PheGenIrs9493627
hapmaprs9493627
1000 genomesrs9493627
hgdprs9493627
ensemblrs9493627
gopubmedrs9493627
geneviewrs9493627
scholarrs9493627
googlers9493627
pharmgkbrs9493627
gwascentralrs9493627
openSNPrs9493627
23andMers9493627
23andMe allrs9493627
SNP Nexus

SNPshotrs9493627
SNPdbers9493627
MSV3drs9493627
GWAS Ctlgrs9493627
GMAF0.3926
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene EYA4
allele A
frequency 0.302
sift TOLERATED
HuRef 1103705013114
Disease Association Defects in EYA4 are the cause of dilated cardiomyopathy 1J (CMD1J) (MIM:605362). CMD1J is an autosomal dominant disorder characterized by sensorineural hearing loss and dilated cardiomyopathy in the absence of other anomalies.



GET Evidence
EYA4-G277S
aa_change Gly277Ser
aa_change_short G277S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.385666
summary



ClinVar
Risk rs9493627(A;A)
Alt rs9493627(A;A)
Reference rs9493627(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene EYA4 LOC101928164
CLNDBN not specified
Reversed 0
HGVS NC_000006.11:g.133789728G>A
CLNSRC ClinVar
CLNACC RCV000037882.3,