SLC6A3, solute carrier family 6 member 3, 6531

N. diseases: 373; N. variants: 38
Disease: Parkinsonism-Dystonia, Infantile ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs431905514
rs431905514 		0.925 0.040 5 1416097 splice donor variant C/T snv
CUI: C2751067
Disease: Parkinsonism-Dystonia, Infantile
Parkinsonism-Dystonia, Infantile 		Nervous System Diseases 0.700 0
dbSNP: rs267607068
rs267607068 		0.925 0.040 5 1414744 missense variant A/T snv
CUI: C2751067
Disease: Parkinsonism-Dystonia, Infantile
Parkinsonism-Dystonia, Infantile 		Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs267607069
rs267607069 		0.925 0.040 5 1411328 missense variant G/A snv 6.3E-06
CUI: C2751067
Disease: Parkinsonism-Dystonia, Infantile
Parkinsonism-Dystonia, Infantile 		Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs747783826
rs747783826 		1.000 0.040 5 1416188 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C2751067
Disease: Parkinsonism-Dystonia, Infantile
Parkinsonism-Dystonia, Infantile 		Nervous System Diseases 0.010 1.000 1 2016 2016