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: rs769412
rs769412 		0.851 0.200 12 68839435 synonymous variant A/G snv 5.5E-02 7.5E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs769412
rs769412 		0.851 0.200 12 68839435 synonymous variant A/G snv 5.5E-02 7.5E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs769412
rs769412 		0.851 0.200 12 68839435 synonymous variant A/G snv 5.5E-02 7.5E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs769412
rs769412 		0.851 0.200 12 68839435 synonymous variant A/G snv 5.5E-02 7.5E-02
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.010 1.000 1 2016 2016
dbSNP: rs769412
rs769412 		0.851 0.200 12 68839435 synonymous variant A/G snv 5.5E-02 7.5E-02
CUI: C0595989
Disease: Carcinoma of larynx
Carcinoma of larynx 		Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs769412
rs769412 		0.851 0.200 12 68839435 synonymous variant A/G snv 5.5E-02 7.5E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs199812774
rs199812774 		0.882 0.040 12 68839357 synonymous variant T/C snv 1.8E-04 2.4E-04
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs199812774
rs199812774 		0.882 0.040 12 68839357 synonymous variant T/C snv 1.8E-04 2.4E-04
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs199812774
rs199812774 		0.882 0.040 12 68839357 synonymous variant T/C snv 1.8E-04 2.4E-04
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs201821879
rs201821879 		0.882 0.040 12 68809237 missense variant C/T snv 1.6E-04 1.9E-04
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs201821879
rs201821879 		0.882 0.040 12 68809237 missense variant C/T snv 1.6E-04 1.9E-04
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs201821879
rs201821879 		0.882 0.040 12 68809237 missense variant C/T snv 1.6E-04 1.9E-04
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		Neoplasms 0.010 1.000 1 2013 2013
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
CUI: C0279000
Disease: Liver and Intrahepatic Biliary Tract Carcinoma
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: rs763077439
rs763077439 		1.000 0.120 12 68839350 missense variant G/A snv 5.2E-05 2.1E-05
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs542860790
rs542860790 		12 68839425 missense variant C/A;T snv 3.6E-05 7.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2017 2017
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