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: rs200856070
rs200856070 		1.000 0.080 11 74457554 missense variant T/C snv 1.4E-04 2.1E-05
CUI: C2751089
Disease: Brugada Syndrome 6
Brugada Syndrome 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 2 2009 2012
dbSNP: rs34604640
rs34604640 		11 74457448 missense variant G/C snv 1.0E-04 1.3E-04
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs34604640
rs34604640 		11 74457448 missense variant G/C snv 1.0E-04 1.3E-04
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs34604640
rs34604640 		11 74457448 missense variant G/C snv 1.0E-04 1.3E-04
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs34604640
rs34604640 		11 74457448 missense variant G/C snv 1.0E-04 1.3E-04
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs121908441
rs121908441 		1.000 0.080 11 74457268 missense variant C/T snv 9.6E-05 7.0E-05
CUI: C2751089
Disease: Brugada Syndrome 6
Brugada Syndrome 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs17215437
rs17215437 		0.851 0.200 11 74457316 missense variant C/T snv 3.0E-03 3.8E-03
CUI: C1279412
Disease: periodic paralysis (finding)
periodic paralysis (finding) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.020 1.000 2 2003 2004
dbSNP: rs17215437
rs17215437 		0.851 0.200 11 74457316 missense variant C/T snv 3.0E-03 3.8E-03
CUI: C0030443
Disease: Familial Periodic Paralysis
Familial Periodic Paralysis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.020 1.000 2 2003 2004
dbSNP: rs17215437
rs17215437 		0.851 0.200 11 74457316 missense variant C/T snv 3.0E-03 3.8E-03
CUI: C0238358
Disease: Hypokalemic periodic paralysis
Hypokalemic periodic paralysis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs17215437
rs17215437 		0.851 0.200 11 74457316 missense variant C/T snv 3.0E-03 3.8E-03
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs773287275
rs773287275 		1.000 0.080 11 74457515 missense variant C/T snv 4.8E-05 2.1E-05
CUI: C0340489
Disease: Lone atrial fibrillation
Lone atrial fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2008 2008