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: rs104894021
rs104894021 		0.851 0.120 7 150951629 missense variant G/C;T snv
CUI: C2348199
Disease: Short Qt Syndrome
Short Qt Syndrome 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.080 1.000 8 2005 2019
dbSNP: rs104894021
rs104894021 		0.851 0.120 7 150951629 missense variant G/C;T snv
CUI: C1865020
Disease: Short QT Syndrome 1
Short QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 2 2004 2005
dbSNP: rs104894021
rs104894021 		0.851 0.120 7 150951629 missense variant G/C;T snv
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2005 2005
dbSNP: rs104894021
rs104894021 		0.851 0.120 7 150951629 missense variant G/C;T snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2005 2005
dbSNP: rs104894021
rs104894021 		0.851 0.120 7 150951629 missense variant G/C;T snv
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2014 2014
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: rs1057520558
rs1057520558 		1.000 0.120 7 150947453 stop gained G/C 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 0
dbSNP: rs1057520598
rs1057520598 		1.000 0.120 7 150959738 splice acceptor variant T/C 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 2000 2009
dbSNP: rs1060500661
rs1060500661 		1.000 0.120 7 150951698 frameshift variant G/- delins
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 0
dbSNP: rs1060500662
rs1060500662 		1.000 0.120 7 150950200 frameshift variant -/TC delins
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 0
dbSNP: rs1060500670
rs1060500670 		1.000 0.120 7 150959642 frameshift variant C/- del
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 2009 2009
dbSNP: rs1064793434
rs1064793434 		1.000 0.120 7 150948978 frameshift variant C/- delins
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 0
dbSNP: rs1064794793
rs1064794793 		1.000 0.120 7 150950983 stop gained 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 0
dbSNP: rs1064795287
rs1064795287 		0.925 0.120 7 150947683 frameshift variant GG/T delins
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 2018 2018
dbSNP: rs1064795287
rs1064795287 		0.925 0.120 7 150947683 frameshift variant GG/T delins
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2018 2018
dbSNP: rs1085307620
rs1085307620 		1.000 0.120 7 150958306 frameshift variant TGCCA/G delins
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 0
dbSNP: rs1131692183
rs1131692183 		1.000 0.120 7 150948456 frameshift variant -/CCTGC delins
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 0
dbSNP: rs1131692327
rs1131692327 		1.000 0.120 7 150947632 frameshift variant TTCTC/- delins
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 0
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: rs1202891821
rs1202891821 		1.000 0.080 7 150947849 frameshift variant -/TTGG ins
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs121912504
rs121912504 		0.851 0.200 7 150951711 missense variant G/A 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 0.810 1.000 21 1995 2014
dbSNP: rs121912504
rs121912504 		0.851 0.200 7 150951711 missense variant G/A snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs121912504
rs121912504 		0.851 0.200 7 150951711 missense variant G/A snv
CUI: C0039070
Disease: Syncope
Syncope 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs121912504
rs121912504 		0.851 0.200 7 150951711 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 0.710 1.000 1 2018 2018
dbSNP: rs121912504
rs121912504 		0.851 0.200 7 150951711 missense variant G/A snv
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.700 0