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: 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