MTOR, mechanistic target of rapamycin kinase, 2475

N. diseases: 960; N. variants: 48
Disease: SMITH-KINGSMORE SYNDROME ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869312671
rs869312671
Entrez Id: 2475;100873935
Gene Symbol: MTOR;MTOR-AS1
MTOR;MTOR-AS1
CUI: C4225259
Disease:
SMITH-KINGSMORE SYNDROME 		T 0.800 CausalMutation CLINVAR
dbSNP: rs869312671
rs869312671
Entrez Id: 2475;100873935
Gene Symbol: MTOR;MTOR-AS1
MTOR;MTOR-AS1
CUI: C4225259
Disease:
SMITH-KINGSMORE SYNDROME 		0.800 GeneticVariation UNIPROT