rs193922587, HNF1A

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.
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
CUI: C1838100
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
48 0.925 0.160 12 120999522 missense variant C/T snv 8.1E-06 0.700 0
Congenital Hyperinsulinism
CUI: C3888018
Disease: Congenital Hyperinsulinism
27 0.925 0.160 12 120999522 missense variant C/T snv 8.1E-06 0.010 1.000 1 2019 2019