Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs869312666
rs869312666
MTOR
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: rs1057519915
rs1057519915
MTOR
0.851 0.160 1 11109318 missense variant A/C snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519915
rs1057519915
MTOR
0.851 0.160 1 11109318 missense variant A/C snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519915
rs1057519915
MTOR
0.851 0.160 1 11109318 missense variant A/C snv
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs1057519915
rs1057519915
MTOR
0.851 0.160 1 11109318 missense variant A/C snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs1057519915
rs1057519915
MTOR
0.851 0.160 1 11109318 missense variant A/C snv
CUI: C4225259
Disease: SMITH-KINGSMORE SYNDROME
SMITH-KINGSMORE SYNDROME 		0.700 0
dbSNP: rs1085307114
rs1085307114
MTOR
1.000 0.080 1 11157255 missense variant A/C snv
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.800 0
dbSNP: rs869312666
rs869312666
MTOR
0.925 0.160 1 11129789 missense variant A/C snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs869312666
rs869312666
MTOR
0.925 0.160 1 11129789 missense variant A/C snv
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		0.700 0
dbSNP: rs869312666
rs869312666
MTOR
0.925 0.160 1 11129789 missense variant A/C snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1057519914
rs1057519914
MTOR
0.851 0.240 1 11157174 missense variant A/G snv
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.700 1.000 4 2015 2016
dbSNP: rs1057519779
rs1057519779
MTOR
0.925 0.200 1 11157242 missense variant A/G snv
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma 		0.700 1.000 1 2014 2014
dbSNP: rs1057519914
rs1057519914
MTOR
0.851 0.240 1 11157174 missense variant A/G snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519914
rs1057519914
MTOR
0.851 0.240 1 11157174 missense variant A/G snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519914
rs1057519914
MTOR
0.851 0.240 1 11157174 missense variant A/G snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs11581010
rs11581010
MTOR ; RNU6-537P
1 11152401 non coding transcript exon variant A/G snv 0.19
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs118203945
rs118203945
MTOR ; UBIAD1
0.882 0.280 1 11273836 missense variant A/G snv
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		0.010 1.000 1 2018 2018
dbSNP: rs118203945
rs118203945
MTOR ; UBIAD1
0.882 0.280 1 11273836 missense variant A/G snv
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.010 1.000 1 2018 2018
dbSNP: rs1883965
rs1883965
MTOR
0.807 0.160 1 11262099 intron variant A/G snv 0.63
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs1883965
rs1883965
MTOR
0.807 0.160 1 11262099 intron variant A/G snv 0.63
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 1.000 1 2018 2018
dbSNP: rs1883965
rs1883965
MTOR
0.807 0.160 1 11262099 intron variant A/G snv 0.63
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2016 2016
dbSNP: rs1883965
rs1883965
MTOR
0.807 0.160 1 11262099 intron variant A/G snv 0.63
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.010 1.000 1 2018 2018
dbSNP: rs1883965
rs1883965
MTOR
0.807 0.160 1 11262099 intron variant A/G snv 0.63
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.010 1.000 1 2018 2018
dbSNP: rs1883965
rs1883965
MTOR
0.807 0.160 1 11262099 intron variant A/G snv 0.63
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 1.000 1 2013 2013
dbSNP: rs1883965
rs1883965
MTOR
0.807 0.160 1 11262099 intron variant A/G snv 0.63
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2016 2016