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rs727503195

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727503195(A;A)
Make rs727503195(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47341991
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs727503195
dbSNP (classic)rs727503195
ClinGenrs727503195
ebirs727503195
HLIrs727503195
Exacrs727503195
Gnomadrs727503195
Varsomers727503195
LitVarrs727503195
Maprs727503195
PheGenIrs727503195
Biobankrs727503195
1000 genomesrs727503195
hgdprs727503195
ensemblrs727503195
geneviewrs727503195
scholarrs727503195
googlers727503195
pharmgkbrs727503195
gwascentralrs727503195
openSNPrs727503195
23andMers727503195
SNPshotrs727503195
SNPdbers727503195
MSV3drs727503195
GWAS Ctlgrs727503195
Max Magnitude0
ClinVar
Risk rs727503195(A;A)
Alt rs727503195(A;A)
Reference Rs727503195(G;G)
Significance Probable-Pathogenic
Disease not specified Primary familial hypertrophic cardiomyopathy Cardiovascular phenotype
Variation info
Gene MYBPC3
CLNDBN not specified Primary familial hypertrophic cardiomyopathy Cardiovascular phenotype
Reversed 1
HGVS NC_000011.9:g.47363542C>T
CLNSRC Children's Hospital of Eastern Ontario
CLNACC RCV000151115.2, RCV000168786.2, RCV000248201.1,