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 RECESSIVE 51
CUI: C4225220
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51
2 1.000 2 138013874 missense variant T/C snv 4.0E-06 0.800 0
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 1.000 2 138013874 missense variant T/C snv 4.0E-06 0.020 1.000 2 2015 2017