rs61755320, SPG7

N. diseases: 41
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.
Sensorimotor neuropathy
CUI: C1112256
Disease: Sensorimotor neuropathy
21 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.700 0
Vertigo
CUI: C0042571
Disease: Vertigo
35 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.700 0
Weight decreased
CUI: C1262477
Disease: Weight decreased
3 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.700 0
Paraparesis, Spastic
CUI: C0037771
Disease: Paraparesis, Spastic
37 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.710 1.000 1 2012 2012
Henoch-Schoenlein Purpura
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
59 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.020 1.000 2 2006 2013
Spastic Paraplegia
CUI: C0037772
Disease: Spastic Paraplegia
93 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.010 1.000 1 2013 2013
Spastic Ataxia
CUI: C1849156
Disease: Spastic Ataxia
3 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.010 1.000 1 2015 2015
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
38 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.800 1.000 8 2006 2016
Dysarthria
CUI: C0013362
Disease: Dysarthria
54 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.700 1.000 1 2016 2016
Muscle Spasticity
CUI: C0026838
Disease: Muscle Spasticity
48 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.700 1.000 1 2016 2016
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.700 1.000 1 2016 2016
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.700 1.000 13 2012 2017
Spastic Paraplegia Type 7
CUI: C3711370
Disease: Spastic Paraplegia Type 7
2 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.010 1.000 1 2017 2017
Spastic Paraplegia, Hereditary
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
41 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.720 1.000 15 2006 2018
Ataxia
CUI: C0004134
Disease: Ataxia
68 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.720 1.000 3 2016 2019
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.020 1.000 2 2019 2019