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rs1057519566

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519566(C;T)
Make rs1057519566(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position76063579
GeneMDH2
is asnp
is mentioned by
dbSNPrs1057519566
dbSNP (old)rs1057519566
ClinGenrs1057519566
ebirs1057519566
HLIrs1057519566
Exacrs1057519566
Gnomadrs1057519566
Varsomers1057519566
Maprs1057519566
PheGenIrs1057519566
Biobankrs1057519566
1000 genomesrs1057519566
hgdprs1057519566
ensemblrs1057519566
gopubmedrs1057519566
geneviewrs1057519566
scholarrs1057519566
googlers1057519566
pharmgkbrs1057519566
gwascentralrs1057519566
openSNPrs1057519566
23andMers1057519566
23andMe allrs1057519566
SNPshotrs1057519566
SNPdbers1057519566
MSV3drs1057519566
GWAS Ctlgrs1057519566
Max Magnitude0
ClinVar
Risk rs1057519566(T;T)
Alt rs1057519566(T;T)
Reference Rs1057519566(C;C)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene MDH2
CLNDBN Epileptic encephalopathy, early infantile, 51
Reversed 0
HGVS NC_000007.13:g.75692897C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000417059.1,