Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554333853
rs1554333853
G 0.700 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008

2017

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

2016

dbSNP: rs1032242817
rs1032242817
T 0.700 CausalMutation CLINVAR

dbSNP: rs1043679457
rs1043679457
G 0.700 CausalMutation CLINVAR

dbSNP: rs1057518921
rs1057518921
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519389
rs1057519389
T 0.700 CausalMutation CLINVAR

dbSNP: rs1085308053
rs1085308053
T 0.700 CausalMutation CLINVAR

dbSNP: rs121912708
rs121912708
A 0.700 CausalMutation CLINVAR

dbSNP: rs137854889
rs137854889
GT 0.700 CausalMutation CLINVAR

dbSNP: rs138659167
rs138659167
G 0.700 CausalMutation CLINVAR

dbSNP: rs140845195
rs140845195
A 0.700 CausalMutation CLINVAR

dbSNP: rs1554603293
rs1554603293
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1554823375
rs1554823375
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555640521
rs1555640521
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1556425596
rs1556425596
T 0.700 CausalMutation CLINVAR

dbSNP: rs1559720382
rs1559720382
C 0.700 CausalMutation CLINVAR

dbSNP: rs1560755661
rs1560755661
A 0.700 CausalMutation CLINVAR

dbSNP: rs1565977796
rs1565977796
A 0.700 CausalMutation CLINVAR

dbSNP: rs1567053134
rs1567053134
C 0.700 CausalMutation CLINVAR

dbSNP: rs1569234334
rs1569234334
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1569355102
rs1569355102
T 0.700 CausalMutation CLINVAR

dbSNP: rs267607093
rs267607093
A 0.700 CausalMutation CLINVAR

dbSNP: rs397515415
rs397515415
A 0.700 CausalMutation CLINVAR

dbSNP: rs431905509
rs431905509
A 0.700 GeneticVariation CLINVAR

dbSNP: rs542652468
rs542652468
A 0.700 CausalMutation CLINVAR