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rs121434525

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121434525(A;G)
Make rs121434525(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position236686699
GeneACTN2
is asnp
is mentioned by
dbSNPrs121434525
ebirs121434525
HLIrs121434525
Exacrs121434525
Varsomers121434525
Maprs121434525
PheGenIrs121434525
hapmaprs121434525
1000 genomesrs121434525
hgdprs121434525
ensemblrs121434525
gopubmedrs121434525
geneviewrs121434525
scholarrs121434525
googlers121434525
pharmgkbrs121434525
gwascentralrs121434525
openSNPrs121434525
23andMers121434525
23andMe allrs121434525
SNP Nexus

SNPshotrs121434525
SNPdbers121434525
MSV3drs121434525
GWAS Ctlgrs121434525
GMAF0.0009183
Max Magnitude0
OMIM102573
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434525(G;G)
Alt rs121434525(G;G)
Reference rs121434525(A;A)
Significance Pathogenic
Disease Dilated cardiomyopathy 1AA not specified Dilated cardiomyopathy
Variation info
Gene ACTN2
CLNDBN Dilated cardiomyopathy 1AA not specified Dilated cardiomyopathy
Reversed 0
HGVS NC_000001.10:g.236849999A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019977.29, RCV000036908.3, RCV000172514.1,