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rs121913633

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913633(A;A)
Make rs121913633(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position23431447
GeneMYH7
is asnp
is mentioned by
dbSNPrs121913633
ebirs121913633
HLIrs121913633
Exacrs121913633
Varsomers121913633
Maprs121913633
PheGenIrs121913633
hapmaprs121913633
1000 genomesrs121913633
hgdprs121913633
ensemblrs121913633
gopubmedrs121913633
geneviewrs121913633
scholarrs121913633
googlers121913633
pharmgkbrs121913633
gwascentralrs121913633
openSNPrs121913633
23andMers121913633
23andMe allrs121913633
SNP Nexus

SNPshotrs121913633
SNPdbers121913633
MSV3drs121913633
GWAS Ctlgrs121913633
Max Magnitude0
OMIM160760
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121913633(A;A)
Alt rs121913633(A;A)
Reference rs121913633(G;G)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy not provided
Variation info
Gene MYH7
CLNDBN Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy not provided
Reversed 1
HGVS NC_000014.8:g.23900656C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015155.25, RCV000036002.3, RCV000158764.1,