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: 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: rs2279744
rs2279744
0.605 0.640 12 68808800 intron variant T/G snv 0.31
ACCELERATED TUMOR FORMATION, SUSCEPTIBILITY TO
0.700 0
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: rs1353702185
rs1353702185
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.100 0.733 15 2007 2017
dbSNP: rs1353702185
rs1353702185
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.100 0.900 10 2006 2017
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: rs1353702185
rs1353702185
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.050 1.000 5 2007 2019
dbSNP: rs1353702185
rs1353702185
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma
Neoplasms 0.050 1.000 5 2009 2014
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: rs1353702185
rs1353702185
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.040 1.000 4 2007 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: rs1353702185
rs1353702185
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
Neoplasms; Respiratory Tract Diseases 0.030 1.000 3 2008 2014
dbSNP: rs1353702185
rs1353702185
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2010 2014
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: rs937283
rs937283
0.716 0.200 12 68808384 5 prime UTR variant A/G snv 0.37
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.030 1.000 3 2016 2018