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rs727502886

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727502886(A;A)
Make rs727502886(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position236719007
GeneACTN2
is asnp
is mentioned by
dbSNPrs727502886
ebirs727502886
HLIrs727502886
Exacrs727502886
Varsomers727502886
Maprs727502886
PheGenIrs727502886
hapmaprs727502886
1000 genomesrs727502886
hgdprs727502886
ensemblrs727502886
gopubmedrs727502886
geneviewrs727502886
scholarrs727502886
googlers727502886
pharmgkbrs727502886
gwascentralrs727502886
openSNPrs727502886
23andMers727502886
23andMe allrs727502886
SNP Nexus

SNPshotrs727502886
SNPdbers727502886
MSV3drs727502886
GWAS Ctlgrs727502886
Max Magnitude0
ClinVar
Risk rs727502886(A;A)
Alt rs727502886(A;A)
Reference rs727502886(G;G)
Significance Pathogenic
Disease Cardiomyopathy Dilated cardiomyopathy 1AA Familial hypertrophic cardiomyopathy 23
Variation info
Gene ACTN2
CLNDBN Cardiomyopathy Dilated cardiomyopathy 1AA Familial hypertrophic cardiomyopathy 23
Reversed 0
HGVS NC_000001.10:g.236882307G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000150148.1, RCV000169904.7, RCV000169905.6,