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rs387907074

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907074(C;T)
Make rs387907074(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position127339214
GeneMEGF10
is asnp
is mentioned by
dbSNPrs387907074
ebirs387907074
HLIrs387907074
Exacrs387907074
Varsomers387907074
Maprs387907074
PheGenIrs387907074
hapmaprs387907074
1000 genomesrs387907074
hgdprs387907074
ensemblrs387907074
gopubmedrs387907074
geneviewrs387907074
scholarrs387907074
googlers387907074
pharmgkbrs387907074
gwascentralrs387907074
openSNPrs387907074
23andMers387907074
23andMe allrs387907074
SNP Nexus

SNPshotrs387907074
SNPdbers387907074
MSV3drs387907074
GWAS Ctlgrs387907074
Max Magnitude0
ClinVar
Risk rs387907074(T;T)
Alt rs387907074(T;T)
Reference rs387907074(C;C)
Significance Pathogenic
Disease Myopathy
Variation info
Gene MEGF10
CLNDBN Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant
Reversed 0
HGVS NC_000005.9:g.126674906C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023958.4,