MTOR, mechanistic target of rapamycin kinase, 2475

N. diseases: 960; N. variants: 48
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519914
rs1057519914 		0.851 0.240 1 11157174 missense variant A/G snv
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 4 2015 2016
dbSNP: rs2295080
rs2295080 		0.695 0.320 1 11262571 upstream gene variant G/C;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.040 1.000 4 2012 2015
dbSNP: rs2295080
rs2295080 		0.695 0.320 1 11262571 upstream gene variant G/C;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.040 1.000 4 2012 2015
dbSNP: rs587777893
rs587777893 		0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 4 2015 2016
dbSNP: rs587777894
rs587777894 		0.776 0.240 1 11124516 missense variant G/A;T snv
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 4 2015 2016
dbSNP: rs869312666
rs869312666 		0.925 0.160 1 11129789 missense variant A/C snv
CUI: C4225259
Disease: SMITH-KINGSMORE SYNDROME
SMITH-KINGSMORE SYNDROME 		0.800 1.000 3 2015 2016
dbSNP: rs878855328
rs878855328 		0.882 0.120 1 11117039 missense variant C/T snv
CUI: C4225259
Disease: SMITH-KINGSMORE SYNDROME
SMITH-KINGSMORE SYNDROME 		0.800 1.000 3 2015 2016
dbSNP: rs17036508
rs17036508 		0.925 0.080 1 11195977 3 prime UTR variant T/C snv 9.0E-02
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.020 1.000 2 2013 2017
dbSNP: rs17036508
rs17036508 		0.925 0.080 1 11195977 3 prime UTR variant T/C snv 9.0E-02
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.020 1.000 2 2013 2017
dbSNP: rs2295080
rs2295080 		0.695 0.320 1 11262571 upstream gene variant G/C;T snv
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.020 1.000 2 2014 2016
dbSNP: rs2295080
rs2295080 		0.695 0.320 1 11262571 upstream gene variant G/C;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2016 2019
dbSNP: rs2295080
rs2295080 		0.695 0.320 1 11262571 upstream gene variant G/C;T snv
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2013 2019
dbSNP: rs2295080
rs2295080 		0.695 0.320 1 11262571 upstream gene variant G/C;T snv
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.020 1.000 2 2012 2013
dbSNP: rs2295080
rs2295080 		0.695 0.320 1 11262571 upstream gene variant G/C;T snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.020 1.000 2 2012 2013
dbSNP: rs2295080
rs2295080 		0.695 0.320 1 11262571 upstream gene variant G/C;T snv
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2013 2019
dbSNP: rs2295080
rs2295080 		0.695 0.320 1 11262571 upstream gene variant G/C;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2016 2019
dbSNP: rs863225264
rs863225264 		0.827 0.240 1 11130747 missense variant C/T snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.020 1.000 2 2015 2016
dbSNP: rs863225264
rs863225264 		0.827 0.240 1 11130747 missense variant C/T snv
CUI: C2720434
Disease: Macroencephaly
Macroencephaly 		0.020 1.000 2 2015 2016
dbSNP: rs863225264
rs863225264 		0.827 0.240 1 11130747 missense variant C/T snv
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.020 1.000 2 2015 2016
dbSNP: rs1034528
rs1034528 		0.882 0.120 1 11189075 intron variant G/C snv 0.30
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1034528
rs1034528 		0.882 0.120 1 11189075 intron variant G/C snv 0.30
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1034528
rs1034528 		0.882 0.120 1 11189075 intron variant G/C snv 0.30
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1034528
rs1034528 		0.882 0.120 1 11189075 intron variant G/C snv 0.30
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1034528
rs1034528 		0.882 0.120 1 11189075 intron variant G/C snv 0.30
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1057519777
rs1057519777 		1.000 0.120 1 11109304 missense variant C/G;T snv
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2014 2014