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: rs876657393
rs876657393 		1.000 0.080 2 47073840 missense variant G/A snv 7.0E-06
CUI: C0220744
Disease: Multiple gastrointestinal atresias (disorder)
Multiple gastrointestinal atresias (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.800 1.000 8 2013 2015
dbSNP: rs587776972
rs587776972 		1.000 0.080 2 47073814 missense variant T/C snv 4.0E-06 1.4E-05
CUI: C0220744
Disease: Multiple gastrointestinal atresias (disorder)
Multiple gastrointestinal atresias (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.800 0
dbSNP: rs139010200
rs139010200 		1.000 0.080 2 47046329 missense variant A/C;G snv 4.0E-06; 2.1E-03
CUI: C0220744
Disease: Multiple gastrointestinal atresias (disorder)
Multiple gastrointestinal atresias (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 1.000 8 2013 2015
dbSNP: rs149602485
rs149602485 		1.000 0.080 2 47050043 missense variant T/A;C snv 4.0E-06; 2.1E-03
CUI: C0220744
Disease: Multiple gastrointestinal atresias (disorder)
Multiple gastrointestinal atresias (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 1.000 8 2013 2015
dbSNP: rs1057516047
rs1057516047 		0.882 0.120 2 47073816 stop gained C/T snv
CUI: C0021828
Disease: Intestinal Atresia
Intestinal Atresia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057516047
rs1057516047 		0.882 0.120 2 47073816 stop gained C/T snv
CUI: C0242855
Disease: Congenital atresia of pulmonary valve
Congenital atresia of pulmonary valve 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057516047
rs1057516047 		0.882 0.120 2 47073816 stop gained C/T snv
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057516047
rs1057516047 		0.882 0.120 2 47073816 stop gained C/T snv
CUI: C0220744
Disease: Multiple gastrointestinal atresias (disorder)
Multiple gastrointestinal atresias (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs13393256
rs13393256 		2 47059620 intron variant A/C snv 0.72
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs768053395
rs768053395 		1.000 0.080 2 47073815 frameshift variant -/C delins 4.0E-06
CUI: C0220744
Disease: Multiple gastrointestinal atresias (disorder)
Multiple gastrointestinal atresias (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs202044972
rs202044972 		1.000 0.080 2 47073861 missense variant G/A;T snv 2.0E-05
CUI: C0220744
Disease: Multiple gastrointestinal atresias (disorder)
Multiple gastrointestinal atresias (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0