rs876657679, CC2D1A

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, Psychosocial
CUI: C0025363
Disease: Mental Retardation, Psychosocial
2 1.000 0.160 19 13913639 splice donor variant G/T snv 0.700 1.000 1 2014 2014
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3
CUI: C1838023
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3
1 1.000 0.160 19 13913639 splice donor variant G/T snv 0.700 0