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: 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 12 2004 2016
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: 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 4 2012 2018
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 4 2004 2015
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 3 2014 2019
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 3 2011 2015
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: 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 2 2011 2016
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: 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 2 2015 2019
dbSNP: rs7972947
rs7972947 		1.000 0.040 12 2061267 intron variant C/A;T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 2 2011 2013
dbSNP: rs1024582
rs1024582 		1.000 0.040 12 2293080 intron variant A/G;T snv
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs10491964
rs10491964 		12 2391265 intron variant G/A;C snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs10744560
rs10744560 		0.882 0.040 12 2277933 intron variant C/G;T snv
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs10744560
rs10744560 		0.882 0.040 12 2277933 intron variant C/G;T snv
CUI: C0236773
Disease: Depressed bipolar I disorder
Depressed bipolar I disorder 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs10744560
rs10744560 		0.882 0.040 12 2277933 intron variant C/G;T snv
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2011 2011
dbSNP: rs10774035
rs10774035 		0.925 0.040 12 2259508 intron variant C/A;T snv
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2011 2011
dbSNP: rs10774035
rs10774035 		0.925 0.040 12 2259508 intron variant C/A;T snv
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs1199713333
rs1199713333 		0.925 0.040 12 2593318 missense variant C/T snv 4.0E-06
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1199713333
rs1199713333 		0.925 0.040 12 2593318 missense variant C/T snv 4.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs121912776
rs121912776 		1.000 0.080 12 2115290 missense variant C/T snv
CUI: C2678478
Disease: Brugada Syndrome 3
Brugada Syndrome 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2007 2007
dbSNP: rs1343191564
rs1343191564 		1.000 0.120 12 2688616 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 0.010 1.000 1 2019 2019
dbSNP: rs1860002
rs1860002 		1.000 0.040 12 2304637 intron variant C/G;T snv
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2011 2011
dbSNP: rs199473391
rs199473391 		1.000 0.040 12 2607117 stop gained G/A;T snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2019 2019