rs397514669, UBIAD1

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.
Schnyder crystalline corneal dystrophy
CUI: C0271287
Disease: Schnyder crystalline corneal dystrophy
13 0.882 0.280 1 11285644 missense variant G/A snv 7.0E-06 0.810 1.000 10 2007 2018
Anemia, Sickle Cell
CUI: C0002895
Disease: Anemia, Sickle Cell
138 0.882 0.280 1 11285644 missense variant G/A snv 7.0E-06 0.010 1.000 1 2013 2013
Renal carnitine transport defect
CUI: C0342788
Disease: Renal carnitine transport defect
123 0.882 0.280 1 11285644 missense variant G/A snv 7.0E-06 0.010 1.000 1 2013 2013