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rs727503190

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs727503190(A;G)
Make rs727503190(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47338594
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs727503190
dbSNP (classic)rs727503190
ClinGenrs727503190
ebirs727503190
HLIrs727503190
Exacrs727503190
Gnomadrs727503190
Varsomers727503190
LitVarrs727503190
Maprs727503190
PheGenIrs727503190
Biobankrs727503190
1000 genomesrs727503190
hgdprs727503190
ensemblrs727503190
geneviewrs727503190
scholarrs727503190
googlers727503190
pharmgkbrs727503190
gwascentralrs727503190
openSNPrs727503190
23andMers727503190
SNPshotrs727503190
SNPdbers727503190
MSV3drs727503190
GWAS Ctlgrs727503190
Max Magnitude0
ClinVar
Risk rs727503190(G;G)
Alt rs727503190(G;G)
Reference Rs727503190(A;A)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 4 not specified Familial hypertrophic cardiomyopathy 1
Variation info
Gene MYBPC3
CLNDBN Familial hypertrophic cardiomyopathy 4 not specified Familial hypertrophic cardiomyopathy 1
Reversed 1
HGVS NC_000011.9:g.47360145T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023053.5, RCV000151101.1, RCV000201877.1,