rs116171274, CYP7B1

N. diseases: 3
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 5A, AUTOSOMAL RECESSIVE (disorder)
16 0.882 0.120 8 64596707 missense variant G/A;T snv 5.2E-04; 8.0E-06 0.800 1.000 6 2009 2016
Spastic Paraplegia, Hereditary
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
41 0.882 0.120 8 64596707 missense variant G/A;T snv 5.2E-04; 8.0E-06 0.710 1.000 2 2016 2017
Spastic Paraplegia
CUI: C0037772
Disease: Spastic Paraplegia
93 0.882 0.120 8 64596707 missense variant G/A;T snv 5.2E-04; 8.0E-06 0.700 1.000 5 2009 2014