SLC6A2, solute carrier family 6 member 2, 6530

N. diseases: 238; N. variants: 24
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: rs121918126
rs121918126
0.925 0.160 16 55698005 missense variant G/A;C;T snv 8.0E-06; 4.0E-06
CUI: C1535893
Disease: Orthostatic intolerance
Orthostatic intolerance
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2000 2000
dbSNP: rs40434
rs40434
16 55665613 intron variant A/G snv 0.31
CUI: C0005612
Disease: Birth Weight
Birth Weight
Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2019 2019
dbSNP: rs5569
rs5569
0.742 0.280 16 55697923 synonymous variant G/A;C snv 0.31; 4.0E-06
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
Mental Disorders 0.100 0.929 14 1999 2019
dbSNP: rs5569
rs5569
0.742 0.280 16 55697923 synonymous variant G/A;C snv 0.31; 4.0E-06
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression
Mental Disorders 0.100 1.000 11 1999 2018
dbSNP: rs5569
rs5569
0.742 0.280 16 55697923 synonymous variant G/A;C snv 0.31; 4.0E-06
Attention deficit hyperactivity disorder
Mental Disorders 0.080 1.000 8 2006 2013
dbSNP: rs2242446
rs2242446
0.776 0.080 16 55656513 5 prime UTR variant C/A;T snv
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
Mental Disorders 0.060 0.833 6 2008 2018
dbSNP: rs3785143
rs3785143
1.000 0.040 16 55661194 intron variant C/T snv 8.6E-02
Attention deficit hyperactivity disorder
Mental Disorders 0.030 1.000 3 2008 2018
dbSNP: rs11568324
rs11568324
1.000 0.040 16 55692146 intron variant C/T snv 5.3E-03
Attention deficit hyperactivity disorder
Mental Disorders 0.020 1.000 2 2008 2008
dbSNP: rs1566652
rs1566652
1.000 0.040 16 55697663 intron variant G/T snv 0.29
Attention deficit hyperactivity disorder
Mental Disorders 0.020 1.000 2 2015 2019
dbSNP: rs2242446
rs2242446
0.776 0.080 16 55656513 5 prime UTR variant C/A;T snv
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression
Mental Disorders 0.020 1.000 2 2008 2017
dbSNP: rs36011
rs36011
1.000 0.040 16 55697132 intron variant G/A snv 3.6E-02
Attention deficit hyperactivity disorder
Mental Disorders 0.020 1.000 2 2015 2019
dbSNP: rs5569
rs5569
0.742 0.280 16 55697923 synonymous variant G/A;C snv 0.31; 4.0E-06
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
Mental Disorders 0.020 0.500 2 2002 2018
dbSNP: rs121918126
rs121918126
0.925 0.160 16 55698005 missense variant G/A;C;T snv 8.0E-06; 4.0E-06
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2003 2003
dbSNP: rs121918126
rs121918126
0.925 0.160 16 55698005 missense variant G/A;C;T snv 8.0E-06; 4.0E-06
CUI: C1145628
Disease: Autonomic nervous system disorders
Autonomic nervous system disorders
Nervous System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs121918126
rs121918126
0.925 0.160 16 55698005 missense variant G/A;C;T snv 8.0E-06; 4.0E-06
Postural Orthostatic Tachycardia Syndrome
Nervous System Diseases 0.010 < 0.001 1 2005 2005
dbSNP: rs121918126
rs121918126
0.925 0.160 16 55698005 missense variant G/A;C;T snv 8.0E-06; 4.0E-06
CUI: C0029118
Disease: Opportunistic Infections
Opportunistic Infections
Infections 0.010 1.000 1 2003 2003
dbSNP: rs1290141855
rs1290141855
1.000 0.040 16 55698539 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1290141855
rs1290141855
1.000 0.040 16 55698539 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms
Behavior and Behavior Mechanisms 0.010 1.000 1 2016 2016
dbSNP: rs1290141855
rs1290141855
1.000 0.040 16 55698539 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs168924
rs168924
16 55655632 5 prime UTR variant A/G snv 0.16
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs17841327
rs17841327
16 55660341 intron variant A/C snv 0.63
CUI: C0015672
Disease: Fatigue
Fatigue
Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2017 2017
dbSNP: rs1805065
rs1805065
1.000 0.040 16 55669586 missense variant C/T snv 9.5E-03 1.1E-02
Attention deficit hyperactivity disorder
Mental Disorders 0.010 1.000 1 2002 2002
dbSNP: rs1805067
rs1805067
0.925 0.080 16 55698511 missense variant G/A snv 2.8E-05 2.1E-05
CUI: C0030319
Disease: Panic Disorder
Panic Disorder
Mental Disorders 0.010 1.000 1 2002 2002
dbSNP: rs1805067
rs1805067
0.925 0.080 16 55698511 missense variant G/A snv 2.8E-05 2.1E-05
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2242446
rs2242446
0.776 0.080 16 55656513 5 prime UTR variant C/A;T snv
CUI: C0011570
Disease: Mental Depression
Mental Depression
Behavior and Behavior Mechanisms 0.010 1.000 1 2008 2008