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.
ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY
CUI: C4014700
Disease: ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY
4 0.851 0.160 11 62691300 stop gained G/A snv 4.0E-06 7.0E-06 0.720 1.000 2 2016 2019
Hereditary Motor and Sensory-Neuropathy Type II
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
144 0.851 0.160 11 62691300 stop gained G/A snv 4.0E-06 7.0E-06 0.700 1.000 2 2013 2015
Congenital Generalized Lipodystrophy Type 2
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
30 0.851 0.160 11 62691300 stop gained G/A snv 4.0E-06 7.0E-06 0.700 0
Encephalopathies
CUI: C0085584
Disease: Encephalopathies
64 0.851 0.160 11 62691300 stop gained G/A snv 4.0E-06 7.0E-06 0.030 1.000 3 2015 2019
Lipodystrophy
CUI: C0023787
Disease: Lipodystrophy
28 0.851 0.160 11 62691300 stop gained G/A snv 4.0E-06 7.0E-06 0.020 1.000 2 2016 2019
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
85 0.851 0.160 11 62691300 stop gained G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019