rs367916692, 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 0.080 8 64596914 missense variant G/A snv 5.2E-05 7.0E-06 0.700 1.000 6 2008 2016
Spastic Paraplegia, Hereditary
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
41 0.925 0.080 8 64596914 missense variant G/A snv 5.2E-05 7.0E-06 0.010 1.000 1 2014 2014