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rs121913634

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 6.2 Familial Hypertrophic Cardiomyopathy
(A;T) 6.2 Familial Hypertrophic Cardiomyopathy
Make rs121913634(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position23425372
GeneMYH7
is asnp
is mentioned by
dbSNPrs121913634
dbSNP (classic)rs121913634
ClinGenrs121913634
ebirs121913634
HLIrs121913634
Exacrs121913634
Gnomadrs121913634
Varsomers121913634
LitVarrs121913634
Maprs121913634
PheGenIrs121913634
Biobankrs121913634
1000 genomesrs121913634
hgdprs121913634
ensemblrs121913634
geneviewrs121913634
scholarrs121913634
googlers121913634
pharmgkbrs121913634
gwascentralrs121913634
openSNPrs121913634
23andMers121913634
SNPshotrs121913634
SNPdbers121913634
MSV3drs121913634
GWAS Ctlgrs121913634
Max Magnitude6.2
OMIM160760
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121913634(G;G)
Alt rs121913634(G;G)
Reference Rs121913634(A;A)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 1 not specified
Variation info
Gene MYH7
CLNDBN Familial hypertrophic cardiomyopathy 1 not specified
Reversed 1
HGVS NC_000014.8:g.23894581T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015156.26, RCV000168868.2,