Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Abnormal biliary tract morphology
CUI: C4021086
Disease: Abnormal biliary tract morphology
1 0.925 0.120 12 14683243 missense variant A/G snv 0.700 0
Congenital absence of spleen
CUI: C0600031
Disease: Congenital absence of spleen
6 0.925 0.120 12 14683243 missense variant A/G snv 0.700 0
Duodenal atresia
CUI: C0266174
Disease: Duodenal atresia
2 0.925 0.120 12 14683243 missense variant A/G snv 0.700 0
Reduced number of intrahepatic bile ducts
CUI: C4021591
Disease: Reduced number of intrahepatic bile ducts
1 0.925 0.120 12 14683243 missense variant A/G snv 0.700 0