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: 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: rs780673045
rs780673045
0.882 0.040 12 68839592 missense variant A/G snv 1.2E-05
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma
Neoplasms 0.020 1.000 2 1999 2004
dbSNP: rs780673045
rs780673045
0.882 0.040 12 68839592 missense variant A/G snv 1.2E-05
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
Neoplasms 0.020 1.000 2 1999 2004
dbSNP: rs780673045
rs780673045
0.882 0.040 12 68839592 missense variant A/G snv 1.2E-05
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone
Neoplasms 0.020 1.000 2 1999 2004
dbSNP: rs1293580721
rs1293580721
0.925 0.080 12 68839568 missense variant A/G snv 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs1293580721
rs1293580721
0.925 0.080 12 68839568 missense variant A/G snv 7.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs138567205
rs138567205
0.925 0.080 12 68828783 missense variant A/G snv 2.8E-05 2.0E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs138567205
rs138567205
0.925 0.080 12 68828783 missense variant A/G snv 2.8E-05 2.0E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1421160509
rs1421160509
0.925 0.080 12 68839466 missense variant A/G snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs1421160509
rs1421160509
0.925 0.080 12 68839466 missense variant A/G snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs367597251
rs367597251
0.807 0.080 12 68839587 missense variant A/G snv 1.5E-04 5.1E-04
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2000 2000
dbSNP: rs367597251
rs367597251
0.807 0.080 12 68839587 missense variant A/G snv 1.5E-04 5.1E-04
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs367597251
rs367597251
0.807 0.080 12 68839587 missense variant A/G snv 1.5E-04 5.1E-04
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs367597251
rs367597251
0.807 0.080 12 68839587 missense variant A/G snv 1.5E-04 5.1E-04
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone
Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs367597251
rs367597251
0.807 0.080 12 68839587 missense variant A/G snv 1.5E-04 5.1E-04
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs367597251
rs367597251
0.807 0.080 12 68839587 missense variant A/G snv 1.5E-04 5.1E-04
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver
Digestive System Diseases; Neoplasms 0.010 1.000 1 2020 2020
dbSNP: rs367597251
rs367597251
0.807 0.080 12 68839587 missense variant A/G snv 1.5E-04 5.1E-04
Liver and Intrahepatic Biliary Tract Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2020 2020
dbSNP: rs367597251
rs367597251
0.807 0.080 12 68839587 missense variant A/G snv 1.5E-04 5.1E-04
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2020 2020
dbSNP: rs367597251
rs367597251
0.807 0.080 12 68839587 missense variant A/G snv 1.5E-04 5.1E-04
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2000 2000
dbSNP: rs367597251
rs367597251
0.807 0.080 12 68839587 missense variant A/G snv 1.5E-04 5.1E-04
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma
Neoplasms 0.010 1.000 1 2019 2019
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: rs746284240
rs746284240
0.763 0.240 12 68809243 missense variant A/G snv
Primary malignant neoplasm of appendix
Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs746284240
rs746284240
0.763 0.240 12 68809243 missense variant A/G snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2014 2014