MDM2, MDM2 proto-oncogene, 4193

N. diseases: 702; N. variants: 30
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: rs937282
rs937282 		1.000 0.080 12 68808017 upstream gene variant C/G snv 0.56
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs756673959
rs756673959 		0.882 0.040 12 68828867 stop lost T/G snv
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs756673959
rs756673959 		0.882 0.040 12 68828867 stop lost T/G snv
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs756673959
rs756673959 		0.882 0.040 12 68828867 stop lost T/G snv
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs746910913
rs746910913 		1.000 0.120 12 68839310 frameshift variant C/-;CC delins
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1690916
rs1690916 		0.882 0.040 12 68841626 3 prime UTR variant G/A snv 0.35
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		Neoplasms 0.020 0.500 2 2014 2016
dbSNP: rs1690916
rs1690916 		0.882 0.040 12 68841626 3 prime UTR variant G/A snv 0.35
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		Neoplasms 0.020 0.500 2 2014 2016
dbSNP: rs1690916
rs1690916 		0.882 0.040 12 68841626 3 prime UTR variant G/A snv 0.35
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.020 0.500 2 2014 2016
dbSNP: rs1690916
rs1690916 		0.882 0.040 12 68841626 3 prime UTR variant G/A snv 0.35
CUI: C0005967
Disease: Bone neoplasms
Bone neoplasms 		Neoplasms; Musculoskeletal Diseases 0.010 1.000 1 2014 2014
dbSNP: rs73144210
rs73144210 		12 68847050 3 prime UTR variant A/G snv 0.34
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs937283
rs937283 		0.716 0.200 12 68808384 5 prime UTR variant A/G snv 0.37
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.030 1.000 3 2016 2018
dbSNP: rs937283
rs937283 		0.716 0.200 12 68808384 5 prime UTR variant A/G snv 0.37
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.030 1.000 3 2016 2018
dbSNP: rs937283
rs937283 		0.716 0.200 12 68808384 5 prime UTR variant A/G snv 0.37
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.030 1.000 3 2016 2018
dbSNP: rs937283
rs937283 		0.716 0.200 12 68808384 5 prime UTR variant A/G snv 0.37
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs937283
rs937283 		0.716 0.200 12 68808384 5 prime UTR variant A/G snv 0.37
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2016 2016
dbSNP: rs937283
rs937283 		0.716 0.200 12 68808384 5 prime UTR variant A/G snv 0.37
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs937283
rs937283 		0.716 0.200 12 68808384 5 prime UTR variant A/G snv 0.37
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs937283
rs937283 		0.716 0.200 12 68808384 5 prime UTR variant A/G snv 0.37
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs937283
rs937283 		0.716 0.200 12 68808384 5 prime UTR variant A/G snv 0.37
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs937283
rs937283 		0.716 0.200 12 68808384 5 prime UTR variant A/G snv 0.37
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs937283
rs937283 		0.716 0.200 12 68808384 5 prime UTR variant A/G snv 0.37
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs937283
rs937283 		0.716 0.200 12 68808384 5 prime UTR variant A/G snv 0.37
CUI: C4722419
Disease: Extrapulmonary Small Cell Carcinoma
Extrapulmonary Small Cell Carcinoma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs937283
rs937283 		0.716 0.200 12 68808384 5 prime UTR variant A/G snv 0.37
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs937283
rs937283 		0.716 0.200 12 68808384 5 prime UTR variant A/G snv 0.37
CUI: C0279000
Disease: Liver and Intrahepatic Biliary Tract Carcinoma
Liver and Intrahepatic Biliary Tract Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs937283
rs937283 		0.716 0.200 12 68808384 5 prime UTR variant A/G snv 0.37
CUI: C0595989
Disease: Carcinoma of larynx
Carcinoma of larynx 		Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2015 2015