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: rs2279744
rs2279744 		0.605 0.640 12 68808800 intron variant T/G snv 0.31
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.090 1.000 9 2011 2019
dbSNP: rs2279744
rs2279744 		0.605 0.640 12 68808800 intron variant T/G snv 0.31
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.090 1.000 9 2011 2019
dbSNP: rs117039649
rs117039649 		0.925 0.080 12 68808776 intron variant G/C snv 2.3E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.050 1.000 5 2012 2019
dbSNP: rs117039649
rs117039649 		0.925 0.080 12 68808776 intron variant G/C snv 2.3E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.050 1.000 5 2012 2019
dbSNP: rs2279744
rs2279744 		0.605 0.640 12 68808800 intron variant T/G snv 0.31
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.040 1.000 4 2014 2018
dbSNP: rs2279744
rs2279744 		0.605 0.640 12 68808800 intron variant T/G snv 0.31
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.040 1.000 4 2014 2018
dbSNP: rs2279744
rs2279744 		0.605 0.640 12 68808800 intron variant T/G snv 0.31
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.030 1.000 3 2011 2014
dbSNP: rs2279744
rs2279744 		0.605 0.640 12 68808800 intron variant T/G snv 0.31
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.030 1.000 3 2013 2015
dbSNP: rs2279744
rs2279744 		0.605 0.640 12 68808800 intron variant T/G snv 0.31
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.030 1.000 3 2011 2014
dbSNP: rs2279744
rs2279744 		0.605 0.640 12 68808800 intron variant T/G snv 0.31
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.030 1.000 3 2015 2019
dbSNP: rs2279744
rs2279744 		0.605 0.640 12 68808800 intron variant T/G snv 0.31
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.030 1.000 3 2013 2015
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
dbSNP: rs2279744
rs2279744 		0.605 0.640 12 68808800 intron variant T/G snv 0.31
CUI: C0029463
Disease: Osteosarcoma
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: C0684249
Disease: Carcinoma of lung
Carcinoma 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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2018 2020
dbSNP: rs2279744
rs2279744 		0.605 0.640 12 68808800 intron variant T/G snv 0.31
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.020 1.000 2 2015 2015
dbSNP: rs117039649
rs117039649 		0.925 0.080 12 68808776 intron variant G/C snv 2.3E-02
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2018 2018
dbSNP: rs117039649
rs117039649 		0.925 0.080 12 68808776 intron variant G/C snv 2.3E-02
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2018 2018