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rs121913639

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913639(A;A)
Make rs121913639(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position23424026
GeneMYH7
is asnp
is mentioned by
dbSNPrs121913639
ebirs121913639
HLIrs121913639
Exacrs121913639
Varsomers121913639
Maprs121913639
PheGenIrs121913639
hapmaprs121913639
1000 genomesrs121913639
hgdprs121913639
ensemblrs121913639
gopubmedrs121913639
geneviewrs121913639
scholarrs121913639
googlers121913639
pharmgkbrs121913639
gwascentralrs121913639
openSNPrs121913639
23andMers121913639
23andMe allrs121913639
SNP Nexus

SNPshotrs121913639
SNPdbers121913639
MSV3drs121913639
GWAS Ctlgrs121913639
Max Magnitude0
OMIM160760
Desc
Variant0019
Relatedalso
ClinVar
Risk rs121913639(A;A)
Alt rs121913639(A;A)
Reference rs121913639(G;G)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 1
Variation info
Gene MYH7
CLNDBN Familial hypertrophic cardiomyopathy 1
Reversed 1
HGVS NC_000014.8:g.23893235C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015162.25,