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rs794726678

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794726678(G;G)
Make rs794726678(G;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position127455519
GeneMEGF10
is asnp
is mentioned by
dbSNPrs794726678
ebirs794726678
HLIrs794726678
Exacrs794726678
Varsomers794726678
Maprs794726678
PheGenIrs794726678
hapmaprs794726678
1000 genomesrs794726678
hgdprs794726678
ensemblrs794726678
gopubmedrs794726678
geneviewrs794726678
scholarrs794726678
googlers794726678
pharmgkbrs794726678
gwascentralrs794726678
openSNPrs794726678
23andMers794726678
23andMe allrs794726678
SNP Nexus

SNPshotrs794726678
SNPdbers794726678
MSV3drs794726678
GWAS Ctlgrs794726678
Max Magnitude0
ClinVar
Risk rs794726678(G;G)
Alt rs794726678(G;G)
Reference rs794726678(T;T)
Significance Pathogenic
Disease Myopathy
Variation info
Gene MEGF10
CLNDBN Myopathy, areflexia, respiratory distress, and dysphagia, early-onset
Reversed 0
HGVS NC_000005.9:g.126791211T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000023953.3,