SLC6A3, solute carrier family 6 member 3, 6531

N. diseases: 373; N. variants: 38
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: rs365663
rs365663 		5 1428768 intron variant A/G snv 0.54
CUI: C0424574
Disease: Duration of sleep
Duration of sleep 		0.700 1.000 2 2019 2019
dbSNP: rs431905504
rs431905504 		0.776 0.280 5 1411242 splice donor variant C/T snv 6.4E-06
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs431905504
rs431905504 		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 		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 		0.776 0.280 5 1411242 splice donor variant C/T snv 6.4E-06
CUI: C0034372
Disease: Quadriplegia
Quadriplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2012 2012
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: rs431905504
rs431905504 		0.776 0.280 5 1411242 splice donor variant C/T snv 6.4E-06
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs431905504
rs431905504 		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 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders 0.700 1.000 1 2012 2012
dbSNP: rs431905504
rs431905504 		0.776 0.280 5 1411242 splice donor variant C/T snv 6.4E-06
CUI: C0080174
Disease: Spina Bifida Occulta
Spina Bifida Occulta 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs431905504
rs431905504 		0.776 0.280 5 1411242 splice donor variant C/T snv 6.4E-06
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		Musculoskeletal Diseases; Wounds and Injuries 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: 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: 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
dbSNP: rs760871529
rs760871529 		1.000 0.080 5 1441416 missense variant C/T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs28364997
rs28364997 		0.807 0.120 5 1403013 missense variant G/A snv 5.3E-04 5.8E-04
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.050 1.000 5 2005 2018
dbSNP: rs28363170
rs28363170 		0.827 0.120 5 1393745 3 prime UTR variant -/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC delins 8.1E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.030 0.667 3 2016 2019
dbSNP: rs28364997
rs28364997 		0.807 0.120 5 1403013 missense variant G/A snv 5.3E-04 5.8E-04
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.030 1.000 3 2014 2018
dbSNP: rs393795
rs393795 		0.851 0.160 5 1428399 intron variant G/T snv 0.28
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.030 1.000 3 2014 2019
dbSNP: rs463379
rs463379 		0.882 0.080 5 1431049 intron variant G/C snv 0.31
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.030 1.000 3 2007 2014
dbSNP: rs2652511
rs2652511 		0.925 0.040 5 1446274 upstream gene variant A/G snv 0.51
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.020 1.000 2 2009 2014
dbSNP: rs27048
rs27048 		1.000 0.040 5 1412530 intron variant C/A;G;T snv
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.020 1.000 2 2011 2018
dbSNP: rs27072
rs27072 		0.807 0.120 5 1394407 3 prime UTR variant C/A;T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.020 1.000 2 2010 2011