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rs121913647

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913647(C;C)
Make rs121913647(C;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position23417173
GeneMYH7
is asnp
is mentioned by
dbSNPrs121913647
ebirs121913647
HLIrs121913647
Exacrs121913647
Varsomers121913647
Maprs121913647
PheGenIrs121913647
hapmaprs121913647
1000 genomesrs121913647
hgdprs121913647
ensemblrs121913647
gopubmedrs121913647
geneviewrs121913647
scholarrs121913647
googlers121913647
pharmgkbrs121913647
gwascentralrs121913647
openSNPrs121913647
23andMers121913647
23andMe allrs121913647
SNP Nexus

SNPshotrs121913647
SNPdbers121913647
MSV3drs121913647
GWAS Ctlgrs121913647
GMAF0.0
Max Magnitude0
OMIM160760
Desc
Variant0029
Relatedalso
ClinVar
Risk rs121913647(A,C,T;A,C,T)
Alt rs121913647(A,C,T;A,C,T)
Reference rs121913647(G;G)
Significance Pathogenic
Disease Laing distal myopathy Myopathy Primary dilated cardiomyopathy not specified
Variation info
Gene MYH7 MHRT
CLNDBN Laing distal myopathy Myopathy, distal, 1 Primary dilated cardiomyopathy not specified
Reversed 1
HGVS NC_000014.8:g.23886382C>G; NC_000014.8:g.23886382C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015172.25, RCV000192201.1, RCV000157364.1, RCV000158660.2,