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rs1057518682

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057518682(-;-)
Make rs1057518682(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position127420174
GeneMEGF10
is asnp
is mentioned by
dbSNPrs1057518682
dbSNP (old)rs1057518682
ClinGenrs1057518682
ebirs1057518682
HLIrs1057518682
Exacrs1057518682
Gnomadrs1057518682
Varsomers1057518682
Maprs1057518682
PheGenIrs1057518682
Biobankrs1057518682
1000 genomesrs1057518682
hgdprs1057518682
ensemblrs1057518682
gopubmedrs1057518682
geneviewrs1057518682
scholarrs1057518682
googlers1057518682
pharmgkbrs1057518682
gwascentralrs1057518682
openSNPrs1057518682
23andMers1057518682
23andMe allrs1057518682
SNPshotrs1057518682
SNPdbers1057518682
MSV3drs1057518682
GWAS Ctlgrs1057518682
Max Magnitude0
ClinVar
Risk rs1057518682(-;-)
Alt rs1057518682(-;-)
Reference Rs1057518682(A;A)
Significance Pathogenic
Disease Myopathy
Variation info
Gene MEGF10
CLNDBN Myopathy, areflexia, respiratory distress, and dysphagia, early-onset
Reversed 0
HGVS NC_000005.9:g.126755866delA
CLNSRC
CLNACC RCV000415251.1,