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.
Adrenoleukodystrophy
CUI: C0162309
Disease: Adrenoleukodystrophy
116 1.000 0.160 12 49951193 splice region variant G/A snv 0.20 0.17 0.010 1.000 1 2018 2018
Ascites
CUI: C0003962
Disease: Ascites
7 1.000 0.160 12 49951193 splice region variant G/A snv 0.20 0.17 0.010 1.000 1 2011 2011
Hyponatremia
CUI: C0020625
Disease: Hyponatremia
11 1.000 0.160 12 49951193 splice region variant G/A snv 0.20 0.17 0.010 1.000 1 2011 2011