rs61755320, SPG7

N. diseases: 8
Source: BEFREE ×
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.
Ataxia
CUI: C0004134
Disease: Ataxia
52 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.720 1.000 2 2016 2019
Spastic Paraplegia, Hereditary
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
18 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.720 1.000 2 2006 2018
Paraparesis, Spastic
CUI: C0037771
Disease: Paraparesis, Spastic
15 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.710 1.000 1 2012 2012
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
64 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.020 1.000 2 2019 2019
Henoch-Schoenlein Purpura
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
58 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 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
CUI: C0037772
Disease: Spastic Paraplegia
12 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 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