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 Generalized Lipodystrophy Type 2
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
30 0.851 0.240 11 62692671 stop gained C/A snv 2.0E-05 1.4E-05 0.700 0
Hereditary Motor and Sensory-Neuropathy Type II
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
144 0.851 0.240 11 62692671 stop gained C/A snv 2.0E-05 1.4E-05 0.700 0
Familial generalized lipodystrophy
CUI: C0221032
Disease: Familial generalized lipodystrophy
15 0.851 0.240 11 62692671 stop gained C/A snv 2.0E-05 1.4E-05 0.020 1.000 2 2007 2009
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
115 0.851 0.240 11 62692671 stop gained C/A snv 2.0E-05 1.4E-05 0.020 1.000 2 2007 2016
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
824 0.851 0.240 11 62692671 stop gained C/A snv 2.0E-05 1.4E-05 0.010 1.000 1 2007 2007