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 0.200 11 62702493 missense variant G/A;C snv 7.0E-06 0.830 1.000 6 2004 2015
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
CUI: C1833308
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
16 0.752 0.200 11 62702493 missense variant G/A;C snv 7.0E-06 0.820 1.000 3 2004 2009
Hereditary Motor and Sensory-Neuropathy Type II
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
144 0.752 0.200 11 62702493 missense variant G/A;C snv 7.0E-06 0.710 1.000 7 2004 2016
Foot dorsiflexor weakness
CUI: C1866141
Disease: Foot dorsiflexor weakness
4 0.752 0.200 11 62702493 missense variant G/A;C snv 7.0E-06 0.700 0
Sensorimotor neuropathy
CUI: C1112256
Disease: Sensorimotor neuropathy
21 0.752 0.200 11 62702493 missense variant G/A;C snv 7.0E-06 0.700 0
Familial generalized lipodystrophy
CUI: C0221032
Disease: Familial generalized lipodystrophy
15 0.752 0.200 11 62702493 missense variant G/A;C snv 7.0E-06 0.030 1.000 3 2004 2010
Russell-Silver syndrome
CUI: C0175693
Disease: Russell-Silver syndrome
12 0.752 0.200 11 62702493 missense variant G/A;C snv 7.0E-06 0.030 1.000 3 2007 2015
Motor Neuron Disease
CUI: C0085084
Disease: Motor Neuron Disease
52 0.752 0.200 11 62702493 missense variant G/A;C snv 7.0E-06 0.020 1.000 2 2009 2012
Peripheral motor neuropathy
CUI: C0235025
Disease: Peripheral motor neuropathy
20 0.752 0.200 11 62702493 missense variant G/A;C snv 7.0E-06 0.020 1.000 2 2007 2013
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
136 0.752 0.200 11 62702493 missense variant G/A;C snv 7.0E-06 0.010 1.000 1 2017 2017
Congenital Generalized Lipodystrophy Type 2
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
30 0.752 0.200 11 62702493 missense variant G/A;C snv 7.0E-06 0.010 1.000 1 2013 2013
Paraparesis, Spastic
CUI: C0037771
Disease: Paraparesis, Spastic
37 0.752 0.200 11 62702493 missense variant G/A;C snv 7.0E-06 0.010 1.000 1 2007 2007
Pyramidal sign
CUI: C0234132
Disease: Pyramidal sign
10 0.752 0.200 11 62702493 missense variant G/A;C snv 7.0E-06 0.010 1.000 1 2010 2010