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rs727503192

From SNPedia

Orientationminus
Geno Mag Summary
(CTA;CTA) 0 common in clinvar
Make rs727503192(CT;CT)
Make rs727503192(CT;G)
Make rs727503192(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47339718
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs727503192
ebirs727503192
HLIrs727503192
Exacrs727503192
Varsomers727503192
Maprs727503192
PheGenIrs727503192
hapmaprs727503192
1000 genomesrs727503192
hgdprs727503192
ensemblrs727503192
gopubmedrs727503192
geneviewrs727503192
scholarrs727503192
googlers727503192
pharmgkbrs727503192
gwascentralrs727503192
openSNPrs727503192
23andMers727503192
23andMe allrs727503192
SNP Nexus

SNPshotrs727503192
SNPdbers727503192
MSV3drs727503192
GWAS Ctlgrs727503192
Max Magnitude0
ClinVar
Risk rs727503192(AA,GA;AA,GA)
Alt rs727503192(AA,GA;AA,GA)
Reference rs727503192(CTA;CTA)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy not provided Familial hypertrophic cardiomyopathy 4
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy not provided Familial hypertrophic cardiomyopathy 4
Reversed 1
HGVS NC_000011.9:g.47361269_47361270delinsC; NC_000011.9:g.47361269_47361270delinsT
CLNSRC
CLNACC RCV000151107.1, RCV000158357.2, RCV000168791.1,