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.
Spastic paraplegia 17
CUI: C2931276
Disease: Spastic paraplegia 17
3 0.752 0.240 11 62702499 missense variant T/C snv 1.6E-05 0.840 1.000 9 2004 2014
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
16 0.752 0.240 11 62702499 missense variant T/C snv 1.6E-05 0.840 1.000 5 2004 2011
Hereditary Motor and Sensory-Neuropathy Type II
144 0.752 0.240 11 62702499 missense variant T/C snv 1.6E-05 0.700 1.000 12 2004 2015
Motor Neuron Disease
CUI: C0085084
Disease: Motor Neuron Disease
52 0.752 0.240 11 62702499 missense variant T/C snv 1.6E-05 0.020 1.000 2 2009 2011
Peripheral motor neuropathy
CUI: C0235025
Disease: Peripheral motor neuropathy
20 0.752 0.240 11 62702499 missense variant T/C snv 1.6E-05 0.020 1.000 2 2009 2013
Russell-Silver syndrome
CUI: C0175693
Disease: Russell-Silver syndrome
12 0.752 0.240 11 62702499 missense variant T/C snv 1.6E-05 0.020 1.000 2 2007 2010
Astrocytoma
CUI: C0004114
Disease: Astrocytoma
59 0.752 0.240 11 62702499 missense variant T/C snv 1.6E-05 0.010 1.000 1 2013 2013
Childhood Astrocytoma
CUI: C4086152
Disease: Childhood Astrocytoma
39 0.752 0.240 11 62702499 missense variant T/C snv 1.6E-05 0.010 1.000 1 2013 2013
Congenital Generalized Lipodystrophy Type 2
30 0.752 0.240 11 62702499 missense variant T/C snv 1.6E-05 0.010 1.000 1 2013 2013
Familial generalized lipodystrophy
CUI: C0221032
Disease: Familial generalized lipodystrophy
15 0.752 0.240 11 62702499 missense variant T/C snv 1.6E-05 0.010 1.000 1 2004 2004