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, AUTOSOMAL DOMINANT 13
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
20 0.882 0.200 14 102039416 missense variant A/C snv 0.800 1.000 5 2010 2017
Malformations of Cortical Development, Group II
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
101 0.882 0.200 14 102039416 missense variant A/C snv 0.010 1.000 1 2012 2012
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
74 0.882 0.200 14 102039416 missense variant A/C snv 0.010 1.000 1 2012 2012