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rs727504366

From SNPedia

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


Make rs727504366(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47342103
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs727504366
dbSNP (classic)rs727504366
ClinGenrs727504366
ebirs727504366
HLIrs727504366
Exacrs727504366
Gnomadrs727504366
Varsomers727504366
LitVarrs727504366
Maprs727504366
PheGenIrs727504366
Biobankrs727504366
1000 genomesrs727504366
hgdprs727504366
ensemblrs727504366
geneviewrs727504366
scholarrs727504366
googlers727504366
pharmgkbrs727504366
gwascentralrs727504366
openSNPrs727504366
23andMers727504366
SNPshotrs727504366
SNPdbers727504366
MSV3drs727504366
GWAS Ctlgrs727504366
Max Magnitude6.2
ClinVar
Risk rs727504366(-;-)
Alt rs727504366(-;-)
Reference Rs727504366(G;G)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47363654delC
CLNSRC
CLNACC RCV000154502.2,