MTOR, mechanistic target of rapamycin kinase, 2475

N. diseases: 68; N. variants: 36
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17036350
rs17036350
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C0524957
Disease:
Corneal Topography 		T 0.800 GeneticVariation GWASDB Association of variants in FRAP1 and PDGFRA with corneal curvature in Asian populations from Singapore. 21665993 2011
dbSNP: rs17036350
rs17036350
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C0524957
Disease:
Corneal Topography 		T 0.800 GeneticVariation GWASCAT Association of variants in FRAP1 and PDGFRA with corneal curvature in Asian populations from Singapore. 21665993 2011
dbSNP: rs1057519779
rs1057519779
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		G 0.800 CausalMutation CLINVAR
dbSNP: rs1057519779
rs1057519779
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.800 GeneticVariation UNIPROT
dbSNP: rs1085307114
rs1085307114
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.800 GeneticVariation UNIPROT
dbSNP: rs1085307114
rs1085307114
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		C 0.800 CausalMutation CLINVAR
dbSNP: rs118203945
rs118203945
Entrez Id: 2475;29914
Gene Symbol: MTOR;UBIAD1
MTOR;UBIAD1
CUI: C0271287
Disease:
Schnyder crystalline corneal dystrophy 		G 0.800 CausalMutation CLINVAR
dbSNP: rs118203945
rs118203945
Entrez Id: 2475;29914
Gene Symbol: MTOR;UBIAD1
MTOR;UBIAD1
CUI: C0271287
Disease:
Schnyder crystalline corneal dystrophy 		0.800 GeneticVariation UNIPROT
dbSNP: rs118203947
rs118203947
Entrez Id: 2475;29914
Gene Symbol: MTOR;UBIAD1
MTOR;UBIAD1
CUI: C0271287
Disease:
Schnyder crystalline corneal dystrophy 		0.800 GeneticVariation UNIPROT
dbSNP: rs118203947
rs118203947
Entrez Id: 2475;29914
Gene Symbol: MTOR;UBIAD1
MTOR;UBIAD1
CUI: C0271287
Disease:
Schnyder crystalline corneal dystrophy 		G 0.800 CausalMutation CLINVAR
dbSNP: rs118203948
rs118203948
Entrez Id: 2475;29914
Gene Symbol: MTOR;UBIAD1
MTOR;UBIAD1
CUI: C0271287
Disease:
Schnyder crystalline corneal dystrophy 		0.800 GeneticVariation UNIPROT
dbSNP: rs118203948
rs118203948
Entrez Id: 2475;29914
Gene Symbol: MTOR;UBIAD1
MTOR;UBIAD1
CUI: C0271287
Disease:
Schnyder crystalline corneal dystrophy 		T 0.800 CausalMutation CLINVAR
dbSNP: rs118203950
rs118203950
Entrez Id: 2475;29914
Gene Symbol: MTOR;UBIAD1
MTOR;UBIAD1
CUI: C0271287
Disease:
Schnyder crystalline corneal dystrophy 		G 0.800 CausalMutation CLINVAR
dbSNP: rs118203950
rs118203950
Entrez Id: 2475;29914
Gene Symbol: MTOR;UBIAD1
MTOR;UBIAD1
CUI: C0271287
Disease:
Schnyder crystalline corneal dystrophy 		0.800 GeneticVariation UNIPROT
dbSNP: rs587777893
rs587777893
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		A 0.800 CausalMutation CLINVAR
dbSNP: rs587777894
rs587777894
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		T 0.800 CausalMutation CLINVAR
dbSNP: rs587777894
rs587777894
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		A 0.800 CausalMutation CLINVAR
dbSNP: rs869312666
rs869312666
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C4225259
Disease:
SMITH-KINGSMORE SYNDROME 		C 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
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: rs878855328
rs878855328
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C4225259
Disease:
SMITH-KINGSMORE SYNDROME 		T 0.800 CausalMutation CLINVAR
dbSNP: rs11581010
rs11581010
Entrez Id: 2475;106479804
Gene Symbol: MTOR;RNU6-537P
MTOR;RNU6-537P
CUI: C1305855
Disease:
Body mass index 		A 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs2300092
rs2300092
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2791643
rs2791643
Entrez Id: 2475;100873935
Gene Symbol: MTOR;MTOR-AS1
MTOR;MTOR-AS1
CUI: C1305855
Disease:
Body mass index 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs28991009
rs28991009
Entrez Id: 2475;10218
Gene Symbol: MTOR;ANGPTL7
MTOR;ANGPTL7
CUI: C0040420
Disease:
Tonometry 		G 0.700 GeneticVariation GWASCAT Genome-wide association analyses identify new loci influencing intraocular pressure. 29617998 2018