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rs786205144

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs786205144(C;C)
Make rs786205144(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position236731300
GeneACTN2
is asnp
is mentioned by
dbSNPrs786205144
ebirs786205144
HLIrs786205144
Exacrs786205144
Varsomers786205144
Maprs786205144
PheGenIrs786205144
hapmaprs786205144
1000 genomesrs786205144
hgdprs786205144
ensemblrs786205144
gopubmedrs786205144
geneviewrs786205144
scholarrs786205144
googlers786205144
pharmgkbrs786205144
gwascentralrs786205144
openSNPrs786205144
23andMers786205144
23andMe allrs786205144
SNP Nexus

SNPshotrs786205144
SNPdbers786205144
MSV3drs786205144
GWAS Ctlgrs786205144
Max Magnitude0
ClinVar
Risk rs786205144(C;C)
Alt rs786205144(C;C)
Reference rs786205144(T;T)
Significance Pathogenic
Disease Dilated cardiomyopathy 1AA
Variation info
Gene ACTN2
CLNDBN Dilated cardiomyopathy 1AA
Reversed 0
HGVS NC_000001.10:g.236894600T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000169907.5,