rs199422235, 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
CUI: C1845243
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
24 0.925 0.080 X 53211867 missense variant C/G snv 0.800 0
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.925 0.080 X 53211867 missense variant C/G snv 0.700 1.000 12 2005 2016