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.
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG
1 0.763 0.240 20 44406195 missense variant C/T snv 0.800 1.000 7 2010 2017
Maturity-Onset Diabetes of the Young, Type 1
24 0.763 0.240 20 44406195 missense variant C/T snv 0.700 1.000 6 2010 2017
Diabetes Mellitus, Non-Insulin-Dependent
2672 0.763 0.240 20 44406195 missense variant C/T snv 0.700 0
Hyperinsulinism
CUI: C0020459
Disease: Hyperinsulinism
64 0.763 0.240 20 44406195 missense variant C/T snv 0.700 0
Hyperinsulinism due to HNF4A deficiency
3 0.763 0.240 20 44406195 missense variant C/T snv 0.700 0
De Toni-Debre-Fanconi Syndrome
CUI: C1857395
Disease: De Toni-Debre-Fanconi Syndrome
2 0.763 0.240 20 44406195 missense variant C/T snv 0.010 1.000 1 2016 2016
Fanconi Anemia
CUI: C0015625
Disease: Fanconi Anemia
173 0.763 0.240 20 44406195 missense variant C/T snv 0.010 1.000 1 2016 2016
Fanconi Syndrome
CUI: C0015624
Disease: Fanconi Syndrome
4 0.763 0.240 20 44406195 missense variant C/T snv 0.010 1.000 1 2016 2016
Hyperinsulinemic hypoglycemia
CUI: C1864903
Disease: Hyperinsulinemic hypoglycemia
6 0.763 0.240 20 44406195 missense variant C/T snv 0.010 1.000 1 2016 2016