rs797045036, TRNT1;CRBN

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 2
CUI: C1843942
Disease: Mental Retardation, Autosomal Recessive 2
2 0.925 0.160 3 3151023 missense variant A/G snv 0.800 1.000 1 2016 2016
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
74 0.925 0.160 3 3151023 missense variant A/G snv 0.010 1.000 1 2017 2017