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rs794726679

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794726679(-;-)
Make rs794726679(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position127419139
GeneMEGF10
is asnp
is mentioned by
dbSNPrs794726679
ebirs794726679
HLIrs794726679
Exacrs794726679
Varsomers794726679
Maprs794726679
PheGenIrs794726679
hapmaprs794726679
1000 genomesrs794726679
hgdprs794726679
ensemblrs794726679
gopubmedrs794726679
geneviewrs794726679
scholarrs794726679
googlers794726679
pharmgkbrs794726679
gwascentralrs794726679
openSNPrs794726679
23andMers794726679
23andMe allrs794726679
SNP Nexus

SNPshotrs794726679
SNPdbers794726679
MSV3drs794726679
GWAS Ctlgrs794726679
Max Magnitude0
ClinVar
Risk rs794726679(;)
Alt rs794726679(;)
Reference rs794726679(C;C)
Significance Pathogenic
Disease Myopathy
Variation info
Gene MEGF10
CLNDBN Myopathy, areflexia, respiratory distress, and dysphagia, early-onset
Reversed 0
HGVS NC_000005.9:g.126754831delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000023954.4,