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 0.827 0.240 20 44407388 missense variant C/A;T snv 4.1E-06 7.0E-06 0.020 1.000 2 2014 2015
De Toni-Debre-Fanconi Syndrome
CUI: C1857395
Disease: De Toni-Debre-Fanconi Syndrome
2 0.827 0.240 20 44407388 missense variant C/A;T snv 4.1E-06 7.0E-06 0.020 1.000 2 2014 2015
Fanconi Anemia
CUI: C0015625
Disease: Fanconi Anemia
173 0.827 0.240 20 44407388 missense variant C/A;T snv 4.1E-06 7.0E-06 0.020 1.000 2 2014 2015
Fanconi Syndrome
CUI: C0015624
Disease: Fanconi Syndrome
4 0.827 0.240 20 44407388 missense variant C/A;T snv 4.1E-06 7.0E-06 0.020 1.000 2 2014 2015
Nephrocalcinosis
CUI: C0027709
Disease: Nephrocalcinosis
20 0.827 0.240 20 44407388 missense variant C/A;T snv 4.1E-06 7.0E-06 0.010 1.000 1 2014 2014