Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555703272
rs1555703272
SLC25A10
T 0.700 GeneticVariation CLINVAR SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency. 29211846

2018
dbSNP: rs114638163
rs114638163
MIPEP
A 0.700 CausalMutation CLINVAR MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. 27799064

2016
dbSNP: rs387906799
rs387906799
KIF1A
A 0.700 CausalMutation CLINVAR De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome. 26486474

2016
dbSNP: rs752746786
rs752746786
GNB1
T 0.700 CausalMutation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799

2016
dbSNP: rs797045164
rs797045164
KIF1A
A 0.700 CausalMutation CLINVAR De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome. 26486474

2016
dbSNP: rs869312821
rs869312821
GNB1
C 0.700 CausalMutation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799

2016
dbSNP: rs869312823
rs869312823
GNB1
C 0.700 CausalMutation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799

2016
dbSNP: rs398122394
rs398122394
ALG13
G 0.700 CausalMutation CLINVAR De novo mutations in epileptic encephalopathies. 23934111

2013
dbSNP: rs1009298200
rs1009298200
ALG1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1060503383
rs1060503383
SYNGAP1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1553621496
rs1553621496
UNC80
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1554700678
rs1554700678
HNRNPK
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555452127
rs1555452127
ALG1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1556425596
rs1556425596
COL6A1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1565569158
rs1565569158
ATN1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1569518070
rs1569518070
COL6A1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs201893408
rs201893408
TMEM67
C 0.700 GeneticVariation CLINVAR

dbSNP: rs369160589
rs369160589
ALG1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs587776625
rs587776625
ADGRG1
T 0.700 CausalMutation CLINVAR

dbSNP: rs752362727
rs752362727
TMEM67
T 0.700 GeneticVariation CLINVAR

dbSNP: rs753611141
rs753611141
PMPCA
A 0.700 CausalMutation CLINVAR

dbSNP: rs768643552
rs768643552
PMPCA
A 0.700 CausalMutation CLINVAR

dbSNP: rs796052505
rs796052505
GABRG2
A 0.700 CausalMutation CLINVAR

dbSNP: rs879253767
rs879253767
SCN2A
C 0.700 CausalMutation CLINVAR