Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796053228
rs796053228
SCN8A
T 0.720 CausalMutation CLINVAR

dbSNP: rs775162839
rs775162839
UGDH
T 0.700 GeneticVariation CLINVAR Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy. 32001716

2020
dbSNP: rs1555703272
rs1555703272
SLC25A10
T 0.700 GeneticVariation CLINVAR SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency. 29211846

2018
dbSNP: rs1135401732
rs1135401732
HNRNPU
T 0.700 CausalMutation CLINVAR Clinical and molecular characterization of de novo loss of function variants in HNRNPU. 28815871

2017
dbSNP: rs1135401733
rs1135401733
HNRNPU
A 0.700 CausalMutation CLINVAR Clinical and molecular characterization of de novo loss of function variants in HNRNPU. 28815871

2017
dbSNP: rs1135401734
rs1135401734
HNRNPU ; SNORA100
C 0.700 CausalMutation CLINVAR Clinical and molecular characterization of de novo loss of function variants in HNRNPU. 28815871

2017
dbSNP: rs779453109
rs779453109
HNRNPU
C 0.700 CausalMutation CLINVAR Clinical and molecular characterization of de novo loss of function variants in HNRNPU. 28815871

2017
dbSNP: rs121909323
rs121909323
CACNA1A
A 0.700 CausalMutation CLINVAR CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 25735478

2015
dbSNP: rs786200962
rs786200962
CACNA1A
G 0.700 CausalMutation CLINVAR CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 25735478

2015
dbSNP: rs1057516094
rs1057516094
KCNQ2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516099
rs1057516099
KCNQ2
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518759
rs1057518759
CDKL5
GGC 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518795
rs1057518795
WWOX
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518816
rs1057518816
FOLR1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518928
rs1057518928
SOX5
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518985
rs1057518985
STXBP1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519000
rs1057519000
SLC35A2
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519269
rs1057519269
AP3B2 ; CPEB1-AS1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519270
rs1057519270
AP3B2 ; CPEB1-AS1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519452
rs1057519452
USP19
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057519524
rs1057519524
SCN2A
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519526
rs1057519526
SCN2A
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519527
rs1057519527
SCN2A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519528
rs1057519528
SCN2A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519529
rs1057519529
SCN1A ; SCN1A-AS1
G 0.700 CausalMutation CLINVAR