rs370667926, MED23

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, AUTOSOMAL RECESSIVE 18
CUI: C3280265
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18
5 1.000 6 131603129 missense variant C/T snv 1.6E-05 1.4E-05 0.700 0
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 1.000 6 131603129 missense variant C/T snv 1.6E-05 1.4E-05 0.010 1.000 1 2011 2011