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rs121913648

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AGA;AGA) 0 common in clinvar
Make rs121913648(-;-)
Make rs121913648(-;AAG)
Make rs121913648(AAG;AAG)
ReferenceGRCh38 38.1/141
Chromosome14
Position23416106
GeneMYH7
is asnp
is mentioned by
dbSNPrs121913648
ebirs121913648
HLIrs121913648
Exacrs121913648
Varsomers121913648
Maprs121913648
PheGenIrs121913648
hapmaprs121913648
1000 genomesrs121913648
hgdprs121913648
ensemblrs121913648
gopubmedrs121913648
geneviewrs121913648
scholarrs121913648
googlers121913648
pharmgkbrs121913648
gwascentralrs121913648
openSNPrs121913648
23andMers121913648
23andMe allrs121913648
SNP Nexus

SNPshotrs121913648
SNPdbers121913648
MSV3drs121913648
GWAS Ctlgrs121913648
Max Magnitude0
OMIM160760
Desc
Variant0030
Relatedalso
ClinVar
Risk rs121913648(;)
Alt rs121913648(;)
Reference rs121913648(AGA;AGA)
Significance Pathogenic
Disease Laing distal myopathy Myopathy
Variation info
Gene MYH7 MHRT
CLNDBN Laing distal myopathy Myopathy, distal, 1
Reversed 1
HGVS NC_000014.8:g.23885314_23885316delTCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000015173.25, RCV000192202.1,