rs387906728, UBE2A

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, NASCIMENTO TYPE
CUI: C3275464
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
4 1.000 X 119574743 missense variant G/A snv 0.800 1.000 2 2006 2010
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 1.000 X 119574743 missense variant G/A snv 0.010 1.000 1 2015 2015