SLC6A3, solute carrier family 6 member 3, 6531

N. diseases: 373; N. variants: 38
Disease: PARKINSONISM-DYSTONIA, INFANTILE, 1 ×
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: rs267607068
rs267607068 		0.925 0.040 5 1414744 missense variant A/T snv
CUI: C4747621
Disease: PARKINSONISM-DYSTONIA, INFANTILE, 1
PARKINSONISM-DYSTONIA, INFANTILE, 1 		0.800 1.000 1 2009 2009
dbSNP: rs267607069
rs267607069 		0.925 0.040 5 1411328 missense variant G/A snv 6.3E-06
CUI: C4747621
Disease: PARKINSONISM-DYSTONIA, INFANTILE, 1
PARKINSONISM-DYSTONIA, INFANTILE, 1 		0.800 1.000 1 2009 2009
dbSNP: rs431905504
rs431905504 		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: rs431905514
rs431905514 		0.925 0.040 5 1416097 splice donor variant C/T snv
CUI: C4747621
Disease: PARKINSONISM-DYSTONIA, INFANTILE, 1
PARKINSONISM-DYSTONIA, INFANTILE, 1 		0.700 0
dbSNP: rs431905515
rs431905515 		1.000 5 1421997 missense variant A/G snv
CUI: C4747621
Disease: PARKINSONISM-DYSTONIA, INFANTILE, 1
PARKINSONISM-DYSTONIA, INFANTILE, 1 		0.700 0
dbSNP: rs431905516
rs431905516 		1.000 5 1406226 missense variant G/A snv 8.0E-06
CUI: C4747621
Disease: PARKINSONISM-DYSTONIA, INFANTILE, 1
PARKINSONISM-DYSTONIA, INFANTILE, 1 		0.700 0