rs1057518697, KDM5C

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.
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
24 0.925 0.120 X 53210820 missense variant G/A snv 0.800 1.000 1 2013 2013
Spastic Paraplegia
CUI: C0037772
Disease: Spastic Paraplegia
93 0.925 0.120 X 53210820 missense variant G/A snv 0.700 0