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: rs1353702185
rs1353702185
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
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: C0741682
Disease: Premenopausal breast cancer
Premenopausal breast cancer
0.010 1.000 1 2008 2008
dbSNP: rs1353702185
rs1353702185
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C1333763
Disease: Gastric Cardia Carcinoma
Gastric Cardia Carcinoma
0.010 1.000 1 2007 2007
dbSNP: rs1353702185
rs1353702185
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
Treatment related acute myeloid leukaemia
0.010 1.000 1 2008 2008
dbSNP: rs1353702185
rs1353702185
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C1333762
Disease: Gastric Cardia Adenocarcinoma
Gastric Cardia Adenocarcinoma
0.010 1.000 1 2007 2007
dbSNP: rs1407906280
rs1407906280
0.882 0.120 12 68839467 missense variant C/T snv 4.0E-06 7.0E-06
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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.010 1.000 1 2015 2015
dbSNP: rs2279744
rs2279744
0.605 0.640 12 68808800 intron variant T/G snv 0.31
Malignant neoplasm of colon and/or rectum
0.010 1.000 1 2020 2020
dbSNP: rs2279744
rs2279744
0.605 0.640 12 68808800 intron variant T/G snv 0.31
Differentiated Thyroid Gland Carcinoma
0.010 1.000 1 2013 2013
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
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: 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: rs2279744
rs2279744
0.605 0.640 12 68808800 intron variant T/G snv 0.31
ACCELERATED TUMOR FORMATION, SUSCEPTIBILITY TO
0.700 0
dbSNP: rs746284240
rs746284240
0.763 0.240 12 68809243 missense variant A/G snv
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract 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: 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: rs2279744
rs2279744
0.605 0.640 12 68808800 intron variant T/G snv 0.31
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2279744
rs2279744
0.605 0.640 12 68808800 intron variant T/G snv 0.31
Familial multiple trichoepitheliomata
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1353702185
rs1353702185
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1353702185
rs1353702185
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease
Digestive System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1353702185
rs1353702185
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C0524909
Disease: Hepatitis B, Chronic
Hepatitis B, Chronic
Digestive System Diseases; Infections 0.010 1.000 1 2013 2013
dbSNP: rs1353702185
rs1353702185
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C0019163
Disease: Hepatitis B
Hepatitis B
Digestive System Diseases; Infections 0.010 1.000 1 2008 2008
dbSNP: rs1353702185
rs1353702185
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
Digestive System Diseases; Neoplasms 0.050 0.800 5 2008 2017
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