Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs550423482
rs550423482
PNPO
CUI: C0036572
Disease: Seizures
Seizures 		A 0.710 CausalMutation CLINVAR

dbSNP: rs932485786
rs932485786
ARX
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs913477149
rs913477149
RFT1
CUI: C0036572
Disease: Seizures
Seizures 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs907041830
rs907041830
EIF2B5
CUI: C0036572
Disease: Seizures
Seizures 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs886043994
rs886043994
ASXL1
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 CausalMutation CLINVAR

dbSNP: rs886041874
rs886041874
PHGDH
CUI: C0036572
Disease: Seizures
Seizures 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs886041339
rs886041339
KCNQ2
CUI: C0036572
Disease: Seizures
Seizures 		CG 0.700 CausalMutation CLINVAR

dbSNP: rs886041300
rs886041300
KCNH1
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs886041276
rs886041276
POLG
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 CausalMutation CLINVAR

dbSNP: rs886041125
rs886041125
ANKRD11
CUI: C0036572
Disease: Seizures
Seizures 		G 0.700 CausalMutation CLINVAR

dbSNP: rs886041116
rs886041116
ADNP
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs886041091
rs886041091
NTRK2
CUI: C0036572
Disease: Seizures
Seizures 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs886040971
rs886040971
TRPS1
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 CausalMutation CLINVAR

dbSNP: rs886040857
rs886040857
EIF2S3
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 CausalMutation CLINVAR

dbSNP: rs886039529
rs886039529
SCN1A ; SCN1A-AS1 ; LOC102724058
CUI: C0036572
Disease: Seizures
Seizures 		C 0.700 CausalMutation CLINVAR

dbSNP: rs879255368
rs879255368
ATP1A3
CUI: C0036572
Disease: Seizures
Seizures 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs879253753
rs879253753
ANKRD11
CUI: C0036572
Disease: Seizures
Seizures 		CT 0.700 CausalMutation CLINVAR

dbSNP: rs878855331
rs878855331
TPP1
CUI: C0036572
Disease: Seizures
Seizures 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs878853325
rs878853325
PPT1
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs878853324
rs878853324
PPT1
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs878853323
rs878853323
PPT1
CUI: C0036572
Disease: Seizures
Seizures 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs878853322
rs878853322
PPT1
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs878853164
rs878853164
KMT5B
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs878853161
rs878853161
SLC2A1
CUI: C0036572
Disease: Seizures
Seizures 		G 0.700 CausalMutation CLINVAR

dbSNP: rs876660634
rs876660634
PTEN
CUI: C0036572
Disease: Seizures
Seizures 		G 0.700 CausalMutation CLINVAR