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rs727503210

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6.2 Familial Hypertrophic Cardiomyopathy
Make rs727503210(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47346318
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs727503210
dbSNP (classic)rs727503210
ClinGenrs727503210
ebirs727503210
HLIrs727503210
Exacrs727503210
Gnomadrs727503210
Varsomers727503210
LitVarrs727503210
Maprs727503210
PheGenIrs727503210
Biobankrs727503210
1000 genomesrs727503210
hgdprs727503210
ensemblrs727503210
geneviewrs727503210
scholarrs727503210
googlers727503210
pharmgkbrs727503210
gwascentralrs727503210
openSNPrs727503210
23andMers727503210
SNPshotrs727503210
SNPdbers727503210
MSV3drs727503210
GWAS Ctlgrs727503210
Max Magnitude6.2
ClinVar
Risk rs727503210(T;T)
Alt rs727503210(T;T)
Reference Rs727503210(C;C)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47367869G>A
CLNSRC
CLNACC RCV000151146.1,