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rs387907073

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387907073(C;C)
Make rs387907073(C;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position127410447
GeneMEGF10
is asnp
is mentioned by
dbSNPrs387907073
ebirs387907073
HLIrs387907073
Exacrs387907073
Varsomers387907073
Maprs387907073
PheGenIrs387907073
hapmaprs387907073
1000 genomesrs387907073
hgdprs387907073
ensemblrs387907073
gopubmedrs387907073
geneviewrs387907073
scholarrs387907073
googlers387907073
pharmgkbrs387907073
gwascentralrs387907073
openSNPrs387907073
23andMers387907073
23andMe allrs387907073
SNP Nexus

SNPshotrs387907073
SNPdbers387907073
MSV3drs387907073
GWAS Ctlgrs387907073
Max Magnitude0
ClinVar
Risk rs387907073(C;C)
Alt rs387907073(C;C)
Reference rs387907073(T;T)
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.126746139T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023957.4,