rs1568731279, HNF4A

N. diseases: 3
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.
Congenital Hyperinsulinism
CUI: C3888018
Disease: Congenital Hyperinsulinism
27 0.925 0.160 20 44414506 splice acceptor variant G/A snv 0.700 0
Maturity-Onset Diabetes of the Young, Type 1
CUI: C1852093
Disease: Maturity-Onset Diabetes of the Young, Type 1
24 0.925 0.160 20 44414506 splice acceptor variant G/A snv 0.700 0
Serum triglycerides increased
CUI: C0813230
Disease: Serum triglycerides increased
6 0.925 0.160 20 44414506 splice acceptor variant G/A snv 0.700 0