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rs727504265

From SNPedia

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


Make rs727504265(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47335166
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs727504265
dbSNP (classic)rs727504265
ClinGenrs727504265
ebirs727504265
HLIrs727504265
Exacrs727504265
Gnomadrs727504265
Varsomers727504265
LitVarrs727504265
Maprs727504265
PheGenIrs727504265
Biobankrs727504265
1000 genomesrs727504265
hgdprs727504265
ensemblrs727504265
geneviewrs727504265
scholarrs727504265
googlers727504265
pharmgkbrs727504265
gwascentralrs727504265
openSNPrs727504265
23andMers727504265
SNPshotrs727504265
SNPdbers727504265
MSV3drs727504265
GWAS Ctlgrs727504265
Max Magnitude6.2
ClinVar
Risk rs727504265(-;-)
Alt rs727504265(-;-)
Reference Rs727504265(CA;CA)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47356717_47356718delTG
CLNSRC
CLNACC RCV000154248.1, RCV000158379.3, RCV000229407.2,