rs121908613, 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, Hereditary
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
41 0.882 0.120 8 64615716 stop gained A/G;T snv 7.6E-05 0.710 1.000 2 2016 2017
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)
CUI: C1849115
Disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)
16 0.882 0.120 8 64615716 stop gained A/G;T snv 7.6E-05 0.700 1.000 1 2009 2009
Spastic Paraplegia
CUI: C0037772
Disease: Spastic Paraplegia
93 0.882 0.120 8 64615716 stop gained A/G;T snv 7.6E-05 0.700 0