rs869312666, MTOR

N. diseases: 4
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 0.925 0.160 1 11129789 missense variant A/C snv 0.800 1.000 3 2015 2016
Congenital anomaly of face
CUI: C0266617
Disease: Congenital anomaly of face
7 0.925 0.160 1 11129789 missense variant A/C snv 0.700 0
Moderate intellectual disability
CUI: C0026351
Disease: Moderate intellectual disability
94 0.925 0.160 1 11129789 missense variant A/C snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.925 0.160 1 11129789 missense variant A/C snv 0.700 0