rs835576, NOTCH2

N. diseases: 2
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.
Biliary Atresia
CUI: C0005411
Disease: Biliary Atresia
32 0.925 0.080 1 119912963 3 prime UTR variant T/C snv 0.18 0.010 1.000 1 2018 2018
Congenital atresia of extrahepatic bile duct
CUI: C4520983
Disease: Congenital atresia of extrahepatic bile duct
19 0.925 0.080 1 119912963 3 prime UTR variant T/C snv 0.18 0.010 1.000 1 2018 2018