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rs727504234

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727504234(C;T)
Make rs727504234(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47347658
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs727504234
dbSNP (classic)rs727504234
ClinGenrs727504234
ebirs727504234
HLIrs727504234
Exacrs727504234
Gnomadrs727504234
Varsomers727504234
LitVarrs727504234
Maprs727504234
PheGenIrs727504234
Biobankrs727504234
1000 genomesrs727504234
hgdprs727504234
ensemblrs727504234
geneviewrs727504234
scholarrs727504234
googlers727504234
pharmgkbrs727504234
gwascentralrs727504234
openSNPrs727504234
23andMers727504234
SNPshotrs727504234
SNPdbers727504234
MSV3drs727504234
GWAS Ctlgrs727504234
Max Magnitude0
ClinVar
Risk rs727504234(T;T)
Alt rs727504234(T;T)
Reference Rs727504234(C;C)
Significance Pathogenic
Disease not specified Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN not specified Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47369209G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000154200.2, RCV000168759.2,