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rs727504269

From SNPedia

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


Make rs727504269(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position47346206
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs727504269
dbSNP (classic)rs727504269
ClinGenrs727504269
ebirs727504269
HLIrs727504269
Exacrs727504269
Gnomadrs727504269
Varsomers727504269
LitVarrs727504269
Maprs727504269
PheGenIrs727504269
Biobankrs727504269
1000 genomesrs727504269
hgdprs727504269
ensemblrs727504269
geneviewrs727504269
scholarrs727504269
googlers727504269
pharmgkbrs727504269
gwascentralrs727504269
openSNPrs727504269
23andMers727504269
SNPshotrs727504269
SNPdbers727504269
MSV3drs727504269
GWAS Ctlgrs727504269
Max Magnitude6.2
ClinVar
Risk rs727504269(A;A) rs727504269(T;T)
Alt rs727504269(A;A) rs727504269(T;T)
Reference Rs727504269(G;G)
Significance Other
Disease Primary familial hypertrophic cardiomyopathy not provided
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy not provided
Reversed 1
HGVS NC_000011.9:g.47367757C>A; NC_000011.9:g.47367757C>T
CLNSRC
CLNACC RCV000211796.1, RCV000288163.1, RCV000211795.1, RCV000382204.1,