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rs727503217

From SNPedia

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


Make rs727503217(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47349895
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs727503217
dbSNP (classic)rs727503217
ClinGenrs727503217
ebirs727503217
HLIrs727503217
Exacrs727503217
Gnomadrs727503217
Varsomers727503217
LitVarrs727503217
Maprs727503217
PheGenIrs727503217
Biobankrs727503217
1000 genomesrs727503217
hgdprs727503217
ensemblrs727503217
geneviewrs727503217
scholarrs727503217
googlers727503217
pharmgkbrs727503217
gwascentralrs727503217
openSNPrs727503217
23andMers727503217
SNPshotrs727503217
SNPdbers727503217
MSV3drs727503217
GWAS Ctlgrs727503217
Max Magnitude6.2
ClinVar
Risk rs727503217(-;-)
Alt rs727503217(-;-)
Reference Rs727503217(T;T)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47371446delA
CLNSRC
CLNACC RCV000151164.2,