rs431905504, SLC6A3

N. diseases: 9
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
0.700 CausalMutation CLINVAR Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524 2012
Quadriplegia
CUI: C0034372
Disease: Quadriplegia
0.700 CausalMutation CLINVAR Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524 2012
Spina Bifida Occulta
CUI: C0080174
Disease: Spina Bifida Occulta
0.700 CausalMutation CLINVAR Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524 2012
Febrile Convulsions
CUI: C0009952
Disease: Febrile Convulsions
0.700 CausalMutation CLINVAR Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524 2012
PARKINSONISM-DYSTONIA, INFANTILE, 1
CUI: C4747621
Disease: PARKINSONISM-DYSTONIA, INFANTILE, 1
0.700 CausalMutation CLINVAR Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524 2012
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
0.700 CausalMutation CLINVAR Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524 2012
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 CausalMutation CLINVAR Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524 2012
Extrapyramidal sign
CUI: C0234133
Disease: Extrapyramidal sign
0.700 CausalMutation CLINVAR Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524 2012
Hip Dysplasia
CUI: C1328407
Disease: Hip Dysplasia
0.700 CausalMutation CLINVAR Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524 2012