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rs727503182

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;AC) 6.2 Familial Hypertrophic Cardiomyopathy
(AC;AC) 0 common in clinvar


Make rs727503182(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47335071
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs727503182
dbSNP (classic)rs727503182
ClinGenrs727503182
ebirs727503182
HLIrs727503182
Exacrs727503182
Gnomadrs727503182
Varsomers727503182
LitVarrs727503182
Maprs727503182
PheGenIrs727503182
Biobankrs727503182
1000 genomesrs727503182
hgdprs727503182
ensemblrs727503182
geneviewrs727503182
scholarrs727503182
googlers727503182
pharmgkbrs727503182
gwascentralrs727503182
openSNPrs727503182
23andMers727503182
SNPshotrs727503182
SNPdbers727503182
MSV3drs727503182
GWAS Ctlgrs727503182
Max Magnitude6.2
ClinVar
Risk rs727503182(-;-)
Alt rs727503182(-;-)
Reference Rs727503182(AC;AC)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy Cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy Cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47356622_47356623delGT
CLNSRC
CLNACC RCV000151085.2, RCV000158382.1,