rs431905504, SLC6A3

N. diseases: 9
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Extrapyramidal sign
CUI: C0234133
Disease: Extrapyramidal sign
7 0.776 0.280 5 1411242 splice donor variant C/T snv 6.4E-06 0.700 1.000 1 2012 2012
Febrile Convulsions
CUI: C0009952
Disease: Febrile Convulsions
65 0.776 0.280 5 1411242 splice donor variant C/T snv 6.4E-06 0.700 1.000 1 2012 2012
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.776 0.280 5 1411242 splice donor variant C/T snv 6.4E-06 0.700 1.000 1 2012 2012
Hip Dysplasia
CUI: C1328407
Disease: Hip Dysplasia
16 0.776 0.280 5 1411242 splice donor variant C/T snv 6.4E-06 0.700 1.000 1 2012 2012
PARKINSONISM-DYSTONIA, INFANTILE, 1
CUI: C4747621
Disease: PARKINSONISM-DYSTONIA, INFANTILE, 1
6 0.776 0.280 5 1411242 splice donor variant C/T snv 6.4E-06 0.700 1.000 1 2012 2012
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.776 0.280 5 1411242 splice donor variant C/T snv 6.4E-06 0.700 1.000 1 2012 2012
Quadriplegia
CUI: C0034372
Disease: Quadriplegia
3 0.776 0.280 5 1411242 splice donor variant C/T snv 6.4E-06 0.700 1.000 1 2012 2012
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.776 0.280 5 1411242 splice donor variant C/T snv 6.4E-06 0.700 1.000 1 2012 2012
Spina Bifida Occulta
CUI: C0080174
Disease: Spina Bifida Occulta
6 0.776 0.280 5 1411242 splice donor variant C/T snv 6.4E-06 0.700 1.000 1 2012 2012