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.
Schnyder crystalline corneal dystrophy
CUI: C0271287
Disease: Schnyder crystalline corneal dystrophy
13 0.882 0.280 1 11273836 missense variant A/G snv 0.800 0
Anemia, Sickle Cell
CUI: C0002895
Disease: Anemia, Sickle Cell
138 0.882 0.280 1 11273836 missense variant A/G snv 0.010 1.000 1 2018 2018
Renal carnitine transport defect
CUI: C0342788
Disease: Renal carnitine transport defect
123 0.882 0.280 1 11273836 missense variant A/G snv 0.010 1.000 1 2018 2018