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rs387907071

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907071(A;A)
Make rs387907071(A;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position127440806
GeneMEGF10
is asnp
is mentioned by
dbSNPrs387907071
ebirs387907071
HLIrs387907071
Exacrs387907071
Varsomers387907071
Maprs387907071
PheGenIrs387907071
hapmaprs387907071
1000 genomesrs387907071
hgdprs387907071
ensemblrs387907071
gopubmedrs387907071
geneviewrs387907071
scholarrs387907071
googlers387907071
pharmgkbrs387907071
gwascentralrs387907071
openSNPrs387907071
23andMers387907071
23andMe allrs387907071
SNP Nexus

SNPshotrs387907071
SNPdbers387907071
MSV3drs387907071
GWAS Ctlgrs387907071
Max Magnitude0
ClinVar
Risk rs387907071(A,T;A,T)
Alt rs387907071(A,T;A,T)
Reference rs387907071(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.126776498C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023952.4,