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rs193922384

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs193922384(-;GGGGGCATCTATGTCTGC)
Make rs193922384(GGGGGCATCTATGTCTGC;GGGGGCATCTATGTCTGC)
ReferenceGRCh38 38.1/142
Chromosome11
Position47332126
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs193922384
dbSNP (old)rs193922384
ClinGenrs193922384
ebirs193922384
HLIrs193922384
Exacrs193922384
Gnomadrs193922384
Varsomers193922384
Maprs193922384
PheGenIrs193922384
Biobankrs193922384
1000 genomesrs193922384
hgdprs193922384
ensemblrs193922384
gopubmedrs193922384
geneviewrs193922384
scholarrs193922384
googlers193922384
pharmgkbrs193922384
gwascentralrs193922384
openSNPrs193922384
23andMers193922384
23andMe allrs193922384
SNP Nexus

SNPshotrs193922384
SNPdbers193922384
MSV3drs193922384
GWAS Ctlgrs193922384
Max Magnitude0
ClinVar
Risk rs193922384(GGGGGCATCTATGTCTGC;GGGGGCATCTATGTCTGC)
Alt rs193922384(GGGGGCATCTATGTCTGC;GGGGGCATCTATGTCTGC)
Reference Rs193922384(-;-)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 4 Primary familial hypertrophic cardiomyopathy Cardiomyopathy not provided Hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Familial hypertrophic cardiomyopathy 4 Primary familial hypertrophic cardiomyopathy Cardiomyopathy not provided Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47353678_47353695dup18
CLNSRC OMIM Allelic Variant
CLNACC RCV000009134.5, RCV000030290.1, RCV000158406.1, RCV000223778.1, RCV000463609.1,