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rs3134560

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs3134560(A;A)
Make rs3134560(A;G)
ReferenceGRCh37.p10 37.5/138
ChromosomeMT
Position12192
GeneSMARCE1P4
is asnp
is mentioned by
dbSNPrs3134560
ebirs3134560
HLIrs3134560
Exacrs3134560
Varsomers3134560
Maprs3134560
PheGenIrs3134560
hapmaprs3134560
1000 genomesrs3134560
hgdprs3134560
ensemblrs3134560
gopubmedrs3134560
geneviewrs3134560
scholarrs3134560
googlers3134560
pharmgkbrs3134560
gwascentralrs3134560
openSNPrs3134560
23andMers3134560
23andMe allrs3134560
SNP Nexus

SNPshotrs3134560
SNPdbers3134560
MSV3drs3134560
GWAS Ctlgrs3134560
GMAF0.002806
Max Magnitude0
ClinVar
Risk rs3134560(A;A)
Alt rs3134560(A;A)
Reference rs3134560(G;G)
Significance Pathogenic
Disease Cardiomyopathy
Variation info
Gene
CLNDBN Cardiomyopathy, idiopathic dilated, mitochondrial Cardiomyopathy, hypertrophic, mitochondrial
Reversed 0
HGVS NC_012920.1:m.12192G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010231.4, RCV000010232.4,