Have questions? Visit https://www.reddit.com/r/SNPedia

rs387907072

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387907072(C;C)
Make rs387907072(C;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position127440825
GeneMEGF10
is asnp
is mentioned by
dbSNPrs387907072
ebirs387907072
HLIrs387907072
Exacrs387907072
Varsomers387907072
Maprs387907072
PheGenIrs387907072
hapmaprs387907072
1000 genomesrs387907072
hgdprs387907072
ensemblrs387907072
gopubmedrs387907072
geneviewrs387907072
scholarrs387907072
googlers387907072
pharmgkbrs387907072
gwascentralrs387907072
openSNPrs387907072
23andMers387907072
23andMe allrs387907072
SNP Nexus

SNPshotrs387907072
SNPdbers387907072
MSV3drs387907072
GWAS Ctlgrs387907072
Max Magnitude0
ClinVar
Risk rs387907072(C;C)
Alt rs387907072(C;C)
Reference rs387907072(T;T)
Significance Pathogenic
Disease Myopathy
Variation info
Gene MEGF10
CLNDBN Myopathy, areflexia, respiratory distress, and dysphagia, early-onset Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant
Reversed 0
HGVS NC_000005.9:g.126776517T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023955.4, RCV000023956.4,