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: C3280690
Disease: ACCELERATED TUMOR FORMATION, SUSCEPTIBILITY TO
ACCELERATED TUMOR FORMATION, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs746284240
rs746284240 		0.763 0.240 12 68809243 missense variant A/G snv
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.010 1.000 1 2014 2014
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: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs2279744
rs2279744 		0.605 0.640 12 68808800 intron variant T/G snv 0.31
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs746284240
rs746284240 		0.763 0.240 12 68809243 missense variant A/G snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs2279744
rs2279744 		0.605 0.640 12 68808800 intron variant T/G snv 0.31
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs746284240
rs746284240 		0.763 0.240 12 68809243 missense variant A/G snv
CUI: C0278608
Disease: Adult Liposarcoma
Adult Liposarcoma 		Neoplasms 0.010 1.000 1 2015 2015
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: 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: rs1353702185
rs1353702185 		0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome 		Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs746284240
rs746284240 		0.763 0.240 12 68809243 missense variant A/G snv
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1407906280
rs1407906280 		0.882 0.120 12 68839467 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C1709527
Disease: B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 		0.010 1.000 1 2019 2019
dbSNP: rs1353702185
rs1353702185 		0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C0005699
Disease: Blast Phase
Blast Phase 		Pathological Conditions, Signs and Symptoms; Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1407906280
rs1407906280 		0.882 0.120 12 68839467 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0005699
Disease: Blast Phase
Blast Phase 		Pathological Conditions, Signs and Symptoms; Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
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: rs1353702185
rs1353702185 		0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.100 0.733 15 2007 2017
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: 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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs764918809
rs764918809 		0.827 0.160 12 68839337 missense variant T/C snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
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: rs2279744
rs2279744 		0.605 0.640 12 68808800 intron variant T/G snv 0.31
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2014 2014
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
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