Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786205232
rs786205232
KCNA2
T 0.800 CausalMutation CLINVAR Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy. 27733563

2016
dbSNP: rs786205232
rs786205232
KCNA2
T 0.800 CausalMutation CLINVAR Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy. 25477152

2015
dbSNP: rs786205232
rs786205232
KCNA2
T 0.800 CausalMutation CLINVAR De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627

2015
dbSNP: rs876657389
rs876657389
KCNA2
A 0.800 CausalMutation CLINVAR De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627

2015
dbSNP: rs876657389
rs876657389
KCNA2
0.800 GeneticVariation UNIPROT De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627

2015
dbSNP: rs876657389
rs876657389
KCNA2
0.800 GeneticVariation UNIPROT Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy. 25477152

2015
dbSNP: rs876657390
rs876657390
KCNA2
0.800 GeneticVariation UNIPROT De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627

2015
dbSNP: rs876657390
rs876657390
KCNA2
0.800 GeneticVariation UNIPROT Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy. 25477152

2015
dbSNP: rs786205231
rs786205231
KCNA2
G 0.800 CausalMutation CLINVAR

dbSNP: rs786205231
rs786205231
KCNA2
0.800 GeneticVariation UNIPROT

dbSNP: rs786205232
rs786205232
KCNA2
0.800 GeneticVariation UNIPROT

dbSNP: rs876657390
rs876657390
KCNA2
A 0.800 CausalMutation CLINVAR

dbSNP: rs763353895
rs763353895
KCNA2
A 0.700 CausalMutation CLINVAR Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability. 27457812

2017
dbSNP: rs886041761
rs886041761
KCNA2
T 0.700 CausalMutation CLINVAR De novo KCNA2 mutations cause hereditary spastic paraplegia. 28032718

2017
dbSNP: rs886041761
rs886041761
KCNA2
T 0.700 CausalMutation CLINVAR A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia. 27543892

2016
dbSNP: rs1064794738
rs1064794738
KCNA2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1553181280
rs1553181280
KCNA2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1553181282
rs1553181282
KCNA2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1553181301
rs1553181301
KCNA2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1553181323
rs1553181323
KCNA2
A 0.700 GeneticVariation CLINVAR