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rs727503194

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs727503194(A;G)
Make rs727503194(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47341194
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs727503194
dbSNP (classic)rs727503194
ClinGenrs727503194
ebirs727503194
HLIrs727503194
Exacrs727503194
Gnomadrs727503194
Varsomers727503194
LitVarrs727503194
Maprs727503194
PheGenIrs727503194
Biobankrs727503194
1000 genomesrs727503194
hgdprs727503194
ensemblrs727503194
geneviewrs727503194
scholarrs727503194
googlers727503194
pharmgkbrs727503194
gwascentralrs727503194
openSNPrs727503194
23andMers727503194
SNPshotrs727503194
SNPdbers727503194
MSV3drs727503194
GWAS Ctlgrs727503194
Max Magnitude0
ClinVar
Risk rs727503194(G;G)
Alt rs727503194(G;G)
Reference Rs727503194(A;A)
Significance Probable-Pathogenic
Disease not specified not provided Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN not specified not provided Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47362745T>C
CLNSRC
CLNACC RCV000151113.2, RCV000158438.1, RCV000208389.1,