Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519566
rs1057519566
MDH2
T 0.700 CausalMutation CLINVAR Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. 27989324

2017
dbSNP: rs1057519567
rs1057519567
MDH2
T 0.700 CausalMutation CLINVAR Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. 27989324

2017
dbSNP: rs375002796
rs375002796
MDH2
T 0.700 CausalMutation CLINVAR Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. 27989324

2017
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
A 0.700 CausalMutation CLINVAR

dbSNP: rs1195505218
rs1195505218
SLC25A22
T 0.700 CausalMutation CLINVAR

dbSNP: rs1553770577
rs1553770577
UBA5 ; NPHP3-ACAD11
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1565035177
rs1565035177
SLC25A22
G 0.700 CausalMutation CLINVAR

dbSNP: rs796053353
rs796053353
STXBP1
T 0.700 CausalMutation CLINVAR

dbSNP: rs879253748
rs879253748
GABRA1
T 0.700 CausalMutation CLINVAR