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: 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: rs1353702185
rs1353702185 		0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases 0.020 1.000 2 2011 2016
dbSNP: rs1353702185
rs1353702185 		0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 0.500 2 2007 2011
dbSNP: rs1353702185
rs1353702185 		0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.020 0.500 2 2011 2015
dbSNP: rs1353702185
rs1353702185 		0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		Hemic and Lymphatic Diseases 0.020 0.500 2 2012 2015
dbSNP: rs1353702185
rs1353702185 		0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.020 1.000 2 2013 2014
dbSNP: rs1353702185
rs1353702185 		0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C1261473
Disease: Sarcoma
Sarcoma 		Neoplasms 0.020 1.000 2 2012 2013
dbSNP: rs1353702185
rs1353702185 		0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.020 1.000 2 2009 2009
dbSNP: rs1353702185
rs1353702185 		0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		Digestive System Diseases; Neoplasms 0.020 0.500 2 2010 2013
dbSNP: rs1353702185
rs1353702185 		0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 1.000 2 2011 2015
dbSNP: rs1353702185
rs1353702185 		0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.020 1.000 2 2013 2014
dbSNP: rs1353702185
rs1353702185 		0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
Malignant neoplasm of soft tissue 		Neoplasms 0.020 1.000 2 2012 2013
dbSNP: rs1353702185
rs1353702185 		0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 0.500 2 2007 2011
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: rs2279744
rs2279744 		0.605 0.640 12 68808800 intron variant T/G snv 0.31
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		Neoplasms 0.020 < 0.001 2 2014 2016
dbSNP: rs2279744
rs2279744 		0.605 0.640 12 68808800 intron variant T/G snv 0.31
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2006 2008
dbSNP: rs2279744
rs2279744 		0.605 0.640 12 68808800 intron variant T/G snv 0.31
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		Neoplasms 0.020 < 0.001 2 2014 2016
dbSNP: rs2279744
rs2279744 		0.605 0.640 12 68808800 intron variant T/G snv 0.31
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.020 1.000 2 2013 2018
dbSNP: rs2279744
rs2279744 		0.605 0.640 12 68808800 intron variant T/G snv 0.31
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.020 1.000 2 2013 2018
dbSNP: rs2279744
rs2279744 		0.605 0.640 12 68808800 intron variant T/G snv 0.31
CUI: C4048328
Disease: cervical cancer
cervical cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.020 1.000 2 2013 2018
dbSNP: rs2279744
rs2279744 		0.605 0.640 12 68808800 intron variant T/G snv 0.31
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2006 2008
dbSNP: rs2279744
rs2279744 		0.605 0.640 12 68808800 intron variant T/G snv 0.31
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.020 1.000 2 2015 2015