Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519547
rs1057519547
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519548
rs1057519548
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519549
rs1057519549
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519550
rs1057519550
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1064794262
rs1064794262
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1135401732
rs1135401732
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
T 0.700 CausalMutation CLINVAR Clinical and molecular characterization of de novo loss of function variants in HNRNPU. 28815871

2017

dbSNP: rs1135401733
rs1135401733
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
A 0.700 CausalMutation CLINVAR Clinical and molecular characterization of de novo loss of function variants in HNRNPU. 28815871

2017

dbSNP: rs1135401734
rs1135401734
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
C 0.700 CausalMutation CLINVAR Clinical and molecular characterization of de novo loss of function variants in HNRNPU. 28815871

2017

dbSNP: rs1179351306
rs1179351306
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
C 0.700 CausalMutation CLINVAR

dbSNP: rs118192211
rs118192211
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
A 0.700 CausalMutation CLINVAR

dbSNP: rs118192235
rs118192235
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121909323
rs121909323
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
A 0.700 CausalMutation CLINVAR CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 25735478

2015

dbSNP: rs1485894376
rs1485894376
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553525325
rs1553525325
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1553567473
rs1553567473
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553920379
rs1553920379
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
AAAGT 0.700 CausalMutation CLINVAR

dbSNP: rs1554208945
rs1554208945
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555703272
rs1555703272
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
T 0.700 GeneticVariation CLINVAR SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency. 29211846

2018

dbSNP: rs1555850842
rs1555850842
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
AG 0.700 GeneticVariation CLINVAR

dbSNP: rs1555889090
rs1555889090
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555889108
rs1555889108
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555889127
rs1555889127
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555889127
rs1555889127
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555889130
rs1555889130
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555889162
rs1555889162
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
C 0.700 CausalMutation CLINVAR