rs587777222, CYP7B1

N. diseases: 2
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)
CUI: C1849115
Disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)
16 0.925 0.120 8 64615194 missense variant T/C snv 2.8E-05 2.8E-05 0.800 1.000 6 2008 2016
Spastic Paraplegia
CUI: C0037772
Disease: Spastic Paraplegia
93 0.925 0.120 8 64615194 missense variant T/C snv 2.8E-05 2.8E-05 0.700 1.000 4 2009 2014