Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs431905504
rs431905504
SLC6A3
0.776 0.280 5 1411242 splice donor variant C/T snv 6.4E-06
CUI: C4747621
Disease: PARKINSONISM-DYSTONIA, INFANTILE, 1
PARKINSONISM-DYSTONIA, INFANTILE, 1 		0.700 1.000 1 2012 2012
dbSNP: rs431905504
rs431905504
SLC6A3
0.776 0.280 5 1411242 splice donor variant C/T snv 6.4E-06
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 1.000 1 2012 2012
dbSNP: rs431905504
rs431905504
SLC6A3
0.776 0.280 5 1411242 splice donor variant C/T snv 6.4E-06
CUI: C0080174
Disease: Spina Bifida Occulta
Spina Bifida Occulta 		0.700 1.000 1 2012 2012
dbSNP: rs431905504
rs431905504
SLC6A3
0.776 0.280 5 1411242 splice donor variant C/T snv 6.4E-06
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign 		0.700 1.000 1 2012 2012
dbSNP: rs431905504
rs431905504
SLC6A3
0.776 0.280 5 1411242 splice donor variant C/T snv 6.4E-06
CUI: C0034372
Disease: Quadriplegia
Quadriplegia 		0.700 1.000 1 2012 2012
dbSNP: rs431905504
rs431905504
SLC6A3
0.776 0.280 5 1411242 splice donor variant C/T snv 6.4E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2012 2012
dbSNP: rs431905504
rs431905504
SLC6A3
0.776 0.280 5 1411242 splice donor variant C/T snv 6.4E-06
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.700 1.000 1 2012 2012
dbSNP: rs431905504
rs431905504
SLC6A3
0.776 0.280 5 1411242 splice donor variant C/T snv 6.4E-06
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		0.700 1.000 1 2012 2012
dbSNP: rs431905504
rs431905504
SLC6A3
0.776 0.280 5 1411242 splice donor variant C/T snv 6.4E-06
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		0.700 1.000 1 2012 2012