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rs367543053

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs367543053(A;G)
Make rs367543053(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position23412855
GeneMYH7
is asnp
is mentioned by
dbSNPrs367543053
ebirs367543053
HLIrs367543053
Exacrs367543053
Varsomers367543053
Maprs367543053
PheGenIrs367543053
hapmaprs367543053
1000 genomesrs367543053
hgdprs367543053
ensemblrs367543053
gopubmedrs367543053
geneviewrs367543053
scholarrs367543053
googlers367543053
pharmgkbrs367543053
gwascentralrs367543053
openSNPrs367543053
23andMers367543053
23andMe allrs367543053
SNP Nexus

SNPshotrs367543053
SNPdbers367543053
MSV3drs367543053
GWAS Ctlgrs367543053
Max Magnitude0
ClinVar
Risk rs367543053(G;G)
Alt rs367543053(G;G)
Reference rs367543053(A;A)
Significance Pathogenic
Disease Congenital myopathy with fiber type disproportion
Variation info
Gene MYH7
CLNDBN Congenital myopathy with fiber type disproportion
Reversed 1
HGVS NC_000014.8:g.23882064T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000034923.1,


[PMID 21288719] A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy.