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rs121909378

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909378(A;A)
Make rs121909378(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position47332931
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs121909378
ebirs121909378
HLIrs121909378
Exacrs121909378
Varsomers121909378
Maprs121909378
PheGenIrs121909378
hapmaprs121909378
1000 genomesrs121909378
hgdprs121909378
ensemblrs121909378
gopubmedrs121909378
geneviewrs121909378
scholarrs121909378
googlers121909378
pharmgkbrs121909378
gwascentralrs121909378
openSNPrs121909378
23andMers121909378
23andMe allrs121909378
SNP Nexus

SNPshotrs121909378
SNPdbers121909378
MSV3drs121909378
GWAS Ctlgrs121909378
Max Magnitude0
OMIM600958
Desc
Variant0018
Relatedalso
ClinVar
Risk rs121909378(A,T;A,T)
Alt rs121909378(A,T;A,T)
Reference rs121909378(G;G)
Significance Pathogenic
Disease not specified Familial hypertrophic cardiomyopathy 4
Variation info
Gene MYBPC3
CLNDBN not specified Familial hypertrophic cardiomyopathy 4
Reversed 1
HGVS NC_000011.9:g.47354482C>A; NC_000011.9:g.47354482C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000168815.1, RCV000009135.4, RCV000151069.2,