rs863225264, MTOR

N. diseases: 6
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.
SMITH-KINGSMORE SYNDROME
CUI: C4225259
Disease: SMITH-KINGSMORE SYNDROME
7 0.827 0.240 1 11130747 missense variant C/T snv 0.810 1.000 1 2017 2017
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
74 0.827 0.240 1 11130747 missense variant C/T snv 0.700 0
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 0.827 0.240 1 11130747 missense variant C/T snv 0.020 1.000 2 2015 2016
Macrocephaly
CUI: C0221355
Disease: Macrocephaly
10 0.827 0.240 1 11130747 missense variant C/T snv 0.020 1.000 2 2015 2016
Macroencephaly
CUI: C2720434
Disease: Macroencephaly
3 0.827 0.240 1 11130747 missense variant C/T snv 0.020 1.000 2 2015 2016
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.827 0.240 1 11130747 missense variant C/T snv 0.010 1.000 1 2015 2015