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rs193922381

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922381(A;A)
Make rs193922381(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position47335037
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs193922381
dbSNP (old)rs193922381
ClinGenrs193922381
ebirs193922381
HLIrs193922381
Exacrs193922381
Gnomadrs193922381
Varsomers193922381
Maprs193922381
PheGenIrs193922381
Biobankrs193922381
1000 genomesrs193922381
hgdprs193922381
ensemblrs193922381
gopubmedrs193922381
geneviewrs193922381
scholarrs193922381
googlers193922381
pharmgkbrs193922381
gwascentralrs193922381
openSNPrs193922381
23andMers193922381
23andMe allrs193922381
SNPshotrs193922381
SNPdbers193922381
MSV3drs193922381
GWAS Ctlgrs193922381
Max Magnitude0
ClinVar
Risk rs193922381(A;A) rs193922381(T;T)
Alt rs193922381(A;A) rs193922381(T;T)
Reference Rs193922381(G;G)
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.47356588C>A; NC_000011.9:g.47356588C>T
CLNSRC
CLNACC RCV000035539.2, RCV000413682.1, RCV000030286.1,