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: rs3800779
rs3800779 		1.000 0.040 7 150974126 intron variant C/A;T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.030 1.000 3 2010 2019
dbSNP: rs3807375
rs3807375 		1.000 0.080 7 150970122 intron variant C/A;T snv
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.700 1.000 3 2010 2019
dbSNP: rs2072413
rs2072413 		7 150950881 intron variant C/T snv 0.24 0.28
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.700 1.000 2 2014 2019
dbSNP: rs7789146
rs7789146 		1.000 0.080 7 150964321 intron variant G/A snv 0.24
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 2 2018 2018
dbSNP: rs12668582
rs12668582 		7 150960113 intron variant A/C;T snv
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.700 1.000 1 2019 2019
dbSNP: rs2968857
rs2968857 		1.000 0.080 7 150965242 intron variant C/T snv 0.70
CUI: C0018799
Disease: Heart Diseases
Heart Diseases 		Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs2968857
rs2968857 		1.000 0.080 7 150965242 intron variant C/T snv 0.70
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs35760656
rs35760656 		7 150961590 intron variant G/A snv 0.28
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.700 1.000 1 2017 2017
dbSNP: rs3778872
rs3778872 		7 150972888 intron variant C/G snv 0.22
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.700 1.000 1 2019 2019
dbSNP: rs3807375
rs3807375 		1.000 0.080 7 150970122 intron variant C/A;T snv
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs4725984
rs4725984 		7 150971426 intron variant T/A;C snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4725984
rs4725984 		7 150971426 intron variant T/A;C snv
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs56282717
rs56282717 		7 150960007 intron variant G/A snv 0.16
CUI: C0424621
Disease: Body Fat Distribution
Body Fat Distribution 		0.700 1.000 1 2019 2019
dbSNP: rs199472844
rs199472844 		1.000 0.120 7 150974854 stop gained G/A;T snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 20 1995 2009
dbSNP: rs773724817
rs773724817 		0.925 0.160 7 150948861 stop gained G/A snv 4.0E-06
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 14 1999 2016
dbSNP: rs773724817
rs773724817 		0.925 0.160 7 150948861 stop gained G/A 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 0.800 5 2003 2012
dbSNP: rs199472926
rs199472926 		1.000 0.120 7 150951689 stop gained C/A;G;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 0.700 1.000 4 2001 2014
dbSNP: rs730880116
rs730880116 		0.925 0.120 7 150958290 stop gained C/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 2 2005 2006
dbSNP: rs794728399
rs794728399 		1.000 0.120 7 150947791 stop gained C/A;G;T snv 6.8E-05; 7.6E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 2 2009 2012
dbSNP: rs1057517742
rs1057517742 		1.000 0.120 7 150958430 stop gained G/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 0.700 1.000 1 2005 2005
dbSNP: rs1137617
rs1137617 		1.000 0.120 7 150951110 stop gained A/C;G;T snv 0.66
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 2009 2009
dbSNP: rs189014161
rs189014161 		0.882 0.120 7 150950336 stop gained G/A;C;T snv 1.6E-05; 4.0E-06
CUI: C0040479
Disease: Torsades de Pointes
Torsades de Pointes 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs189014161
rs189014161 		0.882 0.120 7 150950336 stop gained G/A;C;T snv 1.6E-05; 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 2012 2012
dbSNP: rs199472856
rs199472856 		1.000 0.040 7 150974717 stop gained T/A;C snv
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2005 2005
dbSNP: rs773724817
rs773724817 		0.925 0.160 7 150948861 stop gained G/A snv 4.0E-06
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2012 2012