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rs193922383

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922383(A;A)
Make rs193922383(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position47332896
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs193922383
ebirs193922383
HLIrs193922383
Exacrs193922383
Varsomers193922383
Maprs193922383
PheGenIrs193922383
hapmaprs193922383
1000 genomesrs193922383
hgdprs193922383
ensemblrs193922383
gopubmedrs193922383
geneviewrs193922383
scholarrs193922383
googlers193922383
pharmgkbrs193922383
gwascentralrs193922383
openSNPrs193922383
23andMers193922383
23andMe allrs193922383
SNP Nexus

SNPshotrs193922383
SNPdbers193922383
MSV3drs193922383
GWAS Ctlgrs193922383
Max Magnitude0
ClinVar
Risk rs193922383(A,T;A,T)
Alt rs193922383(A,T;A,T)
Reference rs193922383(C;C)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47354447G>T
CLNSRC ClinVar
CLNACC RCV000030289.5,