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rs28933098

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0
Make rs28933098(C;T)
Make rs28933098(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position23415021
GeneMYH7
is asnp
is mentioned by
dbSNPrs28933098
ebirs28933098
HLIrs28933098
Exacrs28933098
Varsomers28933098
Maprs28933098
PheGenIrs28933098
hapmaprs28933098
1000 genomesrs28933098
hgdprs28933098
ensemblrs28933098
gopubmedrs28933098
geneviewrs28933098
scholarrs28933098
googlers28933098
pharmgkbrs28933098
gwascentralrs28933098
openSNPrs28933098
23andMers28933098
23andMe allrs28933098
SNP Nexus

SNPshotrs28933098
SNPdbers28933098
MSV3drs28933098
GWAS Ctlgrs28933098
Max Magnitude0
OMIM160760
DescMYOPATHY, MYOSIN STORAGE
Variant0028
Relatedalso


ClinVar
Risk rs28933098(A,T;A,T)
Alt rs28933098(A,T;A,T)
Reference rs28933098(C;C)
Significance Pathogenic
Disease Myosin storage myopathy Scapuloperoneal myopathy
Variation info
Gene MYH7 MHRT
CLNDBN Myosin storage myopathy Scapuloperoneal myopathy, MYH7-related
Reversed 1
HGVS NC_000014.8:g.23884230G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015170.26, RCV000015171.22,