Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554904159
rs1554904159
BRSK2 ; LOC107984298
A 0.700 CausalMutation CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638

2019
dbSNP: rs1034395178
rs1034395178
LZTR1
A 0.700 CausalMutation CLINVAR Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. 29469822

2018
dbSNP: rs1057521721
rs1057521721
GRIA3
A 0.700 GeneticVariation CLINVAR A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability. 29016847

2017
dbSNP: rs1287121256
rs1287121256
CAMK2A
G 0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs1554121872
rs1554121872
CAMK2A
G 0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs1554121875
rs1554121875
CAMK2A
C 0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs1554122123
rs1554122123
CAMK2A
CA 0.700 GeneticVariation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs1554122129
rs1554122129
CAMK2A
A 0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs1554122526
rs1554122526
CAMK2A
G 0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs1554123982
rs1554123982
CAMK2A
T 0.700 GeneticVariation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs1554385305
rs1554385305
CAMK2B
T 0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs1554386687
rs1554386687
CAMK2B
T 0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs1554389088
rs1554389088
CAMK2B
A 0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs926027867
rs926027867
CAMK2A
A 0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs587777893
rs587777893
MTOR
A 0.700 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400

2016
dbSNP: rs312262717
rs312262717
SPG11
C 0.700 CausalMutation CLINVAR SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration. 19194956

2009
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
T 0.700 CausalMutation CLINVAR [The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis]. 19065518

2008
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
T 0.700 CausalMutation CLINVAR New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. 15596759

2004
dbSNP: rs1048764460
rs1048764460
COG4
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518940
rs1057518940
RYR1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518950
rs1057518950
TPO
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518961
rs1057518961
DYNC1H1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518963
rs1057518963
OPHN1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518966
rs1057518966
MUSK
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519429
rs1057519429
CACNA1A
G 0.700 GeneticVariation CLINVAR