rs66468541, HSPD1

N. diseases: 4
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 13, autosomal dominant
CUI: C1854467
Disease: Spastic paraplegia 13, autosomal dominant
2 0.925 0.080 2 197497275 missense variant C/T snv 0.810 1.000 1 2008 2008
Spastic Paraplegia, Hereditary
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
41 0.925 0.080 2 197497275 missense variant C/T snv 0.020 1.000 2 2008 2019
Degenerative disorder
CUI: C1285162
Disease: Degenerative disorder
6 0.925 0.080 2 197497275 missense variant C/T snv 0.010 1.000 1 2019 2019
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
85 0.925 0.080 2 197497275 missense variant C/T snv 0.010 1.000 1 2019 2019