Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs959316981
rs959316981
KCNB1 ; LOC105372649
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs886041874
rs886041874
PHGDH
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs886041715
rs886041715
GNAO1 ; DKFZP434H168 ; LOC283856
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs869312702
rs869312702
DNM1 ; CIZ1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs796053216
rs796053216
SCN8A
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs796053130
rs796053130
SCN2A
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs796052957
rs796052957
SCN1A ; SCN1A-AS1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs775162839
rs775162839
UGDH
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		T 0.700 GeneticVariation CLINVAR Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy. 32001716

2020
dbSNP: rs764618040
rs764618040
PHGDH ; LOC105378936
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs759766243
rs759766243
WWOX
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs587776508
rs587776508
CDK2AP1 ; C12orf65
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs536000212
rs536000212
TRIT1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs201497300
rs201497300
ATP7B
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1569017257
rs1569017257
KCNB1 ; LOC105372649
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1569017073
rs1569017073
KCNB1 ; LOC105372649
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1568658507
rs1568658507
KCNB1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555889127
rs1555889127
KCNB1 ; LOC105372649
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555889108
rs1555889108
KCNB1 ; LOC105372649
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555889090
rs1555889090
KCNB1 ; LOC105372649
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555850842
rs1555850842
KCNQ2
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		AG 0.700 GeneticVariation CLINVAR

dbSNP: rs1555703272
rs1555703272
SLC25A10
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: rs1554208945
rs1554208945
ZNF292
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1553567473
rs1553567473
SCN2A
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553525325
rs1553525325
SCN1A ; SCN1A-AS1 ; LOC102724058
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1485894376
rs1485894376
CACNA2D2
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		G 0.700 GeneticVariation CLINVAR