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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
dbSNP (classic)rs387907071
ClinGenrs387907071
ebirs387907071
HLIrs387907071
Exacrs387907071
Gnomadrs387907071
Varsomers387907071
LitVarrs387907071
Maprs387907071
PheGenIrs387907071
Biobankrs387907071
1000 genomesrs387907071
hgdprs387907071
ensemblrs387907071
geneviewrs387907071
scholarrs387907071
googlers387907071
pharmgkbrs387907071
gwascentralrs387907071
openSNPrs387907071
23andMers387907071
SNPshotrs387907071
SNPdbers387907071
MSV3drs387907071
GWAS Ctlgrs387907071
Max Magnitude0
ClinVar
Risk rs387907071(A;A) rs387907071(T;T)
Alt rs387907071(A;A) rs387907071(T;T)
Reference Rs387907071(C;C)
Significance Pathogenic
Disease Myopathy not provided
Variation info
Gene MEGF10
CLNDBN Myopathy, areflexia, respiratory distress, and dysphagia, early-onset not provided
Reversed 0
HGVS NC_000005.9:g.126776498C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023952.5, RCV000484880.1,