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rs727503184

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs727503184(A;A)
Make rs727503184(A;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47335875
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs727503184
dbSNP (classic)rs727503184
ClinGenrs727503184
ebirs727503184
HLIrs727503184
Exacrs727503184
Gnomadrs727503184
Varsomers727503184
LitVarrs727503184
Maprs727503184
PheGenIrs727503184
Biobankrs727503184
1000 genomesrs727503184
hgdprs727503184
ensemblrs727503184
geneviewrs727503184
scholarrs727503184
googlers727503184
pharmgkbrs727503184
gwascentralrs727503184
openSNPrs727503184
23andMers727503184
SNPshotrs727503184
SNPdbers727503184
MSV3drs727503184
GWAS Ctlgrs727503184
Max Magnitude0
ClinVar
Risk rs727503184(A;A)
Alt rs727503184(A;A)
Reference Rs727503184(T;T)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47357426A>T
CLNSRC
CLNACC RCV000151088.2,