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rs1057519567

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519567(-;-)
Make rs1057519567(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position76063555
GeneMDH2
is asnp
is mentioned by
dbSNPrs1057519567
dbSNP (old)rs1057519567
ClinGenrs1057519567
ebirs1057519567
HLIrs1057519567
Exacrs1057519567
Gnomadrs1057519567
Varsomers1057519567
Maprs1057519567
PheGenIrs1057519567
Biobankrs1057519567
1000 genomesrs1057519567
hgdprs1057519567
ensemblrs1057519567
gopubmedrs1057519567
geneviewrs1057519567
scholarrs1057519567
googlers1057519567
pharmgkbrs1057519567
gwascentralrs1057519567
openSNPrs1057519567
23andMers1057519567
23andMe allrs1057519567
SNPshotrs1057519567
SNPdbers1057519567
MSV3drs1057519567
GWAS Ctlgrs1057519567
Max Magnitude0
ClinVar
Risk rs1057519567(-;-)
Alt rs1057519567(-;-)
Reference Rs1057519567(G;G)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene MDH2
CLNDBN Epileptic encephalopathy, early infantile, 51
Reversed 0
HGVS NC_000007.13:g.75692873delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000417042.1,