Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs869312822
rs869312822
GNB1
C 0.700 CausalMutation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799

2016
dbSNP: rs869312825
rs869312825
GNB1
C 0.700 CausalMutation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799

2016
dbSNP: rs1057524820
rs1057524820
SCN8A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs143730802
rs143730802
CLN8
G 0.700 CausalMutation CLINVAR

dbSNP: rs1555462347
rs1555462347
USP7
G 0.700 GeneticVariation CLINVAR

dbSNP: rs587779411
rs587779411
CLN8
G 0.700 CausalMutation CLINVAR

dbSNP: rs753635972
rs753635972
MTHFS ; ST20-MTHFS
T 0.700 GeneticVariation CLINVAR

dbSNP: rs771379232
rs771379232
MTHFS ; ST20-MTHFS
A 0.700 GeneticVariation CLINVAR

dbSNP: rs866294686
rs866294686
TRIM8 ; LOC105378460
T 0.700 GeneticVariation CLINVAR