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: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		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: 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: rs1353702185
rs1353702185 		0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C0007787
Disease: Transient Ischemic Attack
Transient Ischemic Attack 		Nervous System Diseases; Cardiovascular Diseases 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: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2019 2019
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: rs2279744
rs2279744 		0.605 0.640 12 68808800 intron variant T/G snv 0.31
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2279744
rs2279744 		0.605 0.640 12 68808800 intron variant T/G snv 0.31
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs2279744
rs2279744 		0.605 0.640 12 68808800 intron variant T/G snv 0.31
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		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: 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: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs3730590
rs3730590 		12 68826856 intron variant C/T snv 0.29
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs3730590
rs3730590 		12 68826856 intron variant C/T snv 0.29
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs73144210
rs73144210 		12 68847050 3 prime UTR variant A/G snv 0.34
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs746910913
rs746910913 		1.000 0.120 12 68839310 frameshift variant C/-;CC delins
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs756673959
rs756673959 		0.882 0.040 12 68828867 stop lost T/G snv
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs756673959
rs756673959 		0.882 0.040 12 68828867 stop lost T/G snv
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs756673959
rs756673959 		0.882 0.040 12 68828867 stop lost T/G snv
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs761546875
rs761546875 		12 68816914 missense variant G/C snv 4.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 < 0.001 1 2019 2019
dbSNP: rs761546875
rs761546875 		12 68816914 missense variant G/C snv 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 < 0.001 1 2019 2019
dbSNP: rs761546875
rs761546875 		12 68816914 missense variant G/C snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 < 0.001 1 2019 2019