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: rs606231263
rs606231263 		1.000 0.200 12 21773424 missense variant C/T snv
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.720 0.500 2 2013 2018
dbSNP: rs147316959
rs147316959 		1.000 0.040 12 21765962 missense variant C/T snv 9.9E-05 3.1E-04
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs606231264
rs606231264 		1.000 0.200 12 21766472 missense variant A/T snv
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs72554071
rs72554071 		0.882 0.280 12 21765733 missense variant G/A;C snv 1.8E-03; 4.0E-06
CUI: C2931783
Disease: Amelogenesis imperfecta nephrocalcinosis
Amelogenesis imperfecta nephrocalcinosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Stomatognathic Diseases 0.020 1.000 2 2010 2012
dbSNP: rs72554071
rs72554071 		0.882 0.280 12 21765733 missense variant G/A;C snv 1.8E-03; 4.0E-06
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.020 1.000 2 2010 2012
dbSNP: rs72554071
rs72554071 		0.882 0.280 12 21765733 missense variant G/A;C snv 1.8E-03; 4.0E-06
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs72554071
rs72554071 		0.882 0.280 12 21765733 missense variant G/A;C snv 1.8E-03; 4.0E-06
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2012 2012