Source: CURATED ×
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: rs1006737
rs1006737 		0.695 0.120 12 2236129 intron variant G/A snv 0.36
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.900 0.964 5 2008 2019
dbSNP: rs1006737
rs1006737 		0.695 0.120 12 2236129 intron variant G/A snv 0.36
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.900 1.000 3 2010 2019
dbSNP: rs1006737
rs1006737 		0.695 0.120 12 2236129 intron variant G/A snv 0.36
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.900 0.917 2 2010 2016
dbSNP: rs4765905
rs4765905 		0.827 0.040 12 2240418 intron variant G/A;C snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.830 1.000 1 2012 2018
dbSNP: rs4765913
rs4765913 		1.000 0.040 12 2310730 intron variant A/T snv 0.82
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.810 1.000 3 2011 2017
dbSNP: rs10774037
rs10774037 		0.882 0.040 12 2311360 intron variant G/A snv 0.77
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.800 1.000 2 2013 2019
dbSNP: rs4765914
rs4765914 		0.925 0.040 12 2311211 intron variant T/C;G snv
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.800 1.000 2 2013 2019
dbSNP: rs1006737
rs1006737 		0.695 0.120 12 2236129 intron variant G/A snv 0.36
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.800 1.000 1 2013 2013
dbSNP: rs1006737
rs1006737 		0.695 0.120 12 2236129 intron variant G/A snv 0.36
CUI: C0004936
Disease: Mental disorders
Mental disorders 		Mental Disorders 0.750 1.000 1 2014 2018
dbSNP: rs1006737
rs1006737 		0.695 0.120 12 2236129 intron variant G/A snv 0.36
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		Mental Disorders 0.730 1.000 1 2011 2017
dbSNP: rs786205745
rs786205745 		0.807 0.320 12 2504538 missense variant G/A;C snv
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular Diseases 0.730 1.000 1 2004 2015
dbSNP: rs79891110
rs79891110 		0.807 0.320 12 2504944 stop gained G/A;T snv
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular Diseases 0.730 1.000 0 2011 2015
dbSNP: rs79891110
rs79891110 		0.807 0.320 12 2504944 stop gained G/A;T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.710 1.000 11 2004 2016
dbSNP: rs2007044
rs2007044 		0.882 0.040 12 2235794 intron variant A/G snv 0.50
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.710 1.000 6 2014 2019
dbSNP: rs1024582
rs1024582 		1.000 0.040 12 2293080 intron variant A/G;T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.710 1.000 2 2014 2019
dbSNP: rs4765905
rs4765905 		0.827 0.040 12 2240418 intron variant G/A;C snv
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.710 1.000 1 2011 2016
dbSNP: rs750835733
rs750835733 		1.000 0.120 12 2593252 missense variant C/G;T snv 4.0E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.710 1.000 1 2013 2013
dbSNP: rs786205748
rs786205748 		1.000 0.120 12 2566465 missense variant C/T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.710 1.000 1 2015 2019
dbSNP: rs794727587
rs794727587 		1.000 0.200 12 2665600 missense variant C/G snv
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular Diseases 0.710 < 0.001 0 2012 2012
dbSNP: rs80315385
rs80315385 		0.882 0.200 12 2504932 missense variant G/A snv
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular Diseases 0.710 1.000 0 2013 2013
dbSNP: rs587782933
rs587782933 		0.827 0.200 12 2504526 missense variant G/A snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 6 2005 2016
dbSNP: rs16929368
rs16929368 		12 2414606 intron variant T/A;C snv
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 2 2018 2019
dbSNP: rs2159100
rs2159100 		0.925 0.040 12 2237227 intron variant C/A;G;T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 2 2017 2019
dbSNP: rs2239063
rs2239063 		1.000 0.040 12 2402665 intron variant A/C snv 0.23
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 2 2018 2019
dbSNP: rs2283274
rs2283274 		12 2075300 intron variant G/C snv 0.21
CUI: C1821417
Disease: RESTING HEART RATE
RESTING HEART RATE 		0.700 1.000 2 2016 2018