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rs727503209

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 6.2 Familial Hypertrophic Cardiomyopathy
Make rs727503209(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47346303
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs727503209
dbSNP (classic)rs727503209
ClinGenrs727503209
ebirs727503209
HLIrs727503209
Exacrs727503209
Gnomadrs727503209
Varsomers727503209
LitVarrs727503209
Maprs727503209
PheGenIrs727503209
Biobankrs727503209
1000 genomesrs727503209
hgdprs727503209
ensemblrs727503209
geneviewrs727503209
scholarrs727503209
googlers727503209
pharmgkbrs727503209
gwascentralrs727503209
openSNPrs727503209
23andMers727503209
SNPshotrs727503209
SNPdbers727503209
MSV3drs727503209
GWAS Ctlgrs727503209
Max Magnitude6.2
ClinVar
Risk rs727503209(T;T)
Alt rs727503209(T;T)
Reference Rs727503209(-;-)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47367855dupA
CLNSRC
CLNACC RCV000151145.2,