rs878855328, 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 0.882 0.120 1 11117039 missense variant C/T snv 0.800 1.000 3 2015 2016
Central Apnea
CUI: C3887548
Disease: Central Apnea
2 0.882 0.120 1 11117039 missense variant C/T snv 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.882 0.120 1 11117039 missense variant C/T snv 0.700 0
Sleep Apnea, Obstructive
CUI: C0520679
Disease: Sleep Apnea, Obstructive
105 0.882 0.120 1 11117039 missense variant C/T snv 0.700 0