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: rs6801957
rs6801957 		1.000 0.080 3 38725824 intron variant T/C snv 0.67
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval 		0.800 1.000 6 2011 2019
dbSNP: rs10428132
rs10428132 		0.925 0.120 3 38736063 intron variant T/G snv 0.67
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.830 1.000 4 2013 2018
dbSNP: rs6795970
rs6795970 		0.807 0.200 3 38725184 missense variant A/G snv 0.65 0.70
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval 		0.800 1.000 4 2010 2019
dbSNP: rs6800541
rs6800541 		1.000 0.080 3 38733341 intron variant C/T snv 0.70
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval 		0.800 1.000 3 2010 2019
dbSNP: rs7433306
rs7433306 		3 38729148 intron variant C/G snv 0.70
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval 		0.800 1.000 3 2011 2019
dbSNP: rs6599250
rs6599250 		3 38742538 intron variant T/C snv 0.65 0.70
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval 		0.800 1.000 2 2011 2018
dbSNP: rs6790396
rs6790396 		1.000 0.080 3 38730434 intron variant C/G snv 0.67
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 2 2018 2018
dbSNP: rs6795970
rs6795970 		0.807 0.200 3 38725184 missense variant A/G snv 0.65 0.70
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.020 1.000 2 2014 2017
dbSNP: rs6795970
rs6795970 		0.807 0.200 3 38725184 missense variant A/G snv 0.65 0.70
CUI: C0018794
Disease: Heart Block
Heart Block 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.020 1.000 2 2010 2015
dbSNP: rs6795970
rs6795970 		0.807 0.200 3 38725184 missense variant A/G snv 0.65 0.70
CUI: C0429097
Disease: QRS complex feature
QRS complex feature 		0.700 1.000 2 2010 2016
dbSNP: rs6798015
rs6798015 		1.000 0.080 3 38757345 intron variant C/T snv 0.70
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval 		0.800 1.000 2 2011 2019
dbSNP: rs6800541
rs6800541 		1.000 0.080 3 38733341 intron variant C/T snv 0.70
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.020 1.000 2 2015 2017
dbSNP: rs6801957
rs6801957 		1.000 0.080 3 38725824 intron variant T/C snv 0.67
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.700 1.000 2 2014 2019
dbSNP: rs10428132
rs10428132 		0.925 0.120 3 38736063 intron variant T/G snv 0.67
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs10428168
rs10428168 		1.000 0.080 3 38738568 intron variant T/C snv 0.41
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2013 2013
dbSNP: rs11129801
rs11129801 		1.000 0.080 3 38708884 intron variant A/G snv 0.71
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2013 2013
dbSNP: rs12632942
rs12632942 		1.000 0.080 3 38723507 missense variant A/G snv 0.24 0.22
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs12638572
rs12638572 		1.000 0.080 3 38746306 intron variant A/G;T snv
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2013 2013
dbSNP: rs138404783
rs138404783 		1.000 3 38752313 missense variant A/G snv 9.3E-05 9.8E-05
CUI: C3809893
Disease: EPISODIC PAIN SYNDROME, FAMILIAL, 2
EPISODIC PAIN SYNDROME, FAMILIAL, 2 		0.800 1.000 1 2012 2012
dbSNP: rs138832868
rs138832868 		1.000 0.080 3 38713959 missense variant C/T snv 1.7E-03 2.5E-03
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs151090729
rs151090729 		1.000 0.040 3 38698236 missense variant C/T snv 1.5E-03 6.1E-04
CUI: C3276706
Disease: Small Fiber Neuropathy
Small Fiber Neuropathy 		Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs201698323
rs201698323 		0.851 0.120 3 38742448 missense variant A/G;T snv 5.9E-04
CUI: C0014804
Disease: Erythromelalgia
Erythromelalgia 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs201698323
rs201698323 		0.851 0.120 3 38742448 missense variant A/G;T snv 5.9E-04
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs201698323
rs201698323 		0.851 0.120 3 38742448 missense variant A/G;T snv 5.9E-04
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs201698323
rs201698323 		0.851 0.120 3 38742448 missense variant A/G;T snv 5.9E-04
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.010 1.000 1 2016 2016