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: rs746284240
rs746284240 		0.763 0.240 12 68809243 missense variant A/G snv
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs746284240
rs746284240 		0.763 0.240 12 68809243 missense variant A/G snv
CUI: C0496779
Disease: Malignant neoplasm of appendix
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: C1301034
Disease: Pancreatic intraepithelial neoplasia
Pancreatic intraepithelial neoplasia 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs746284240
rs746284240 		0.763 0.240 12 68809243 missense variant A/G snv
CUI: C0023827
Disease: liposarcoma
liposarcoma 		Neoplasms 0.010 1.000 1 2015 2015
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: 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: 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: 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: rs746284240
rs746284240 		0.763 0.240 12 68809243 missense variant A/G snv
CUI: C0279984
Disease: Childhood Liposarcoma
Childhood Liposarcoma 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs746732648
rs746732648 		0.925 0.080 12 68828917 missense variant A/G snv 4.0E-06
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs746732648
rs746732648 		0.925 0.080 12 68828917 missense variant A/G snv 4.0E-06
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs749406013
rs749406013 		0.925 0.080 12 68809257 missense variant A/G snv 4.0E-06
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs749406013
rs749406013 		0.925 0.080 12 68809257 missense variant A/G snv 4.0E-06
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 < 0.001 1 2015 2015
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: rs917870680
rs917870680 		0.925 0.080 12 68839304 missense variant A/G snv
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2002 2002
dbSNP: rs917870680
rs917870680 		0.925 0.080 12 68839304 missense variant A/G snv
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2002 2002
dbSNP: rs917870680
rs917870680 		0.925 0.080 12 68839304 missense variant A/G snv
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2002 2002
dbSNP: rs937283
rs937283 		0.716 0.200 12 68808384 5 prime UTR variant A/G snv 0.37
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs937283
rs937283 		0.716 0.200 12 68808384 5 prime UTR variant A/G snv 0.37
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2016 2016
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