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: rs118203998
rs118203998
0.790 0.400 16 23603471 stop gained G/C;T snv 1.6E-05; 4.0E-06
Esophageal atresia with or without tracheoesophageal fistula
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs180177100
rs180177100
0.827 0.400 16 23635306 stop gained G/A snv 8.0E-06 1.4E-05
Esophageal atresia with or without tracheoesophageal fistula
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 0