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rs796596743

From SNPedia

Merged intors397515963
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs796596743(-;C)
Make rs796596743(C;C)
ReferenceGRCh38.p7 38.3/149
Chromosome11
Position47337730
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs796596743
dbSNP (classic)rs796596743
ClinGenrs796596743
ebirs796596743
HLIrs796596743
Exacrs796596743
Gnomadrs796596743
Varsomers796596743
LitVarrs796596743
Maprs796596743
PheGenIrs796596743
Biobankrs796596743
1000 genomesrs796596743
hgdprs796596743
ensemblrs796596743
geneviewrs796596743
scholarrs796596743
googlers796596743
pharmgkbrs796596743
gwascentralrs796596743
openSNPrs796596743
23andMers796596743
SNPshotrs796596743
SNPdbers796596743
MSV3drs796596743
GWAS Ctlgrs796596743
StatusMerged into rs397515963
Max Magnitude0
ClinVar
Risk rs796596743(C;C)
Alt rs796596743(C;C)
Reference Rs796596743(;)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 4 Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 1 Hypertrophic cardiomyopathy not provided Cardiovascular phenotype
Variation info
Gene MYBPC3
CLNDBN Familial hypertrophic cardiomyopathy 4 Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 1 Hypertrophic cardiomyopathy not provided Cardiovascular phenotype
Reversed 0
HGVS NC_000011.9:g.47359281dupC
CLNSRC Centenary Institute Children's Hospital of Eastern Ontario MYBPC3 homepage - Leiden Muscular Dystrophy pages OMIM Allelic Variant
CLNACC RCV000035487.6, RCV000157312.3, RCV000162332.1, RCV000198895.3, RCV000223694.2, RCV000245146.1,