Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1353702185
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.100 0.733 15 2007 2017
dbSNP: rs1353702185
rs1353702185
MDM2
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 		0.100 0.733 15 2007 2017
dbSNP: rs1353702185
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 0.900 10 2006 2017
dbSNP: rs2279744
rs2279744
MDM2
0.605 0.640 12 68808800 intron variant T/G snv 0.31
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.090 1.000 9 2011 2019
dbSNP: rs2279744
rs2279744
MDM2
0.605 0.640 12 68808800 intron variant T/G snv 0.31
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.090 1.000 9 2011 2019
dbSNP: rs117039649
rs117039649
MDM2
0.925 0.080 12 68808776 intron variant G/C snv 2.3E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.050 1.000 5 2012 2019
dbSNP: rs117039649
rs117039649
MDM2
0.925 0.080 12 68808776 intron variant G/C snv 2.3E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.050 1.000 5 2012 2019
dbSNP: rs1353702185
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.050 1.000 5 2009 2014
dbSNP: rs1353702185
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.050 0.800 5 2008 2017
dbSNP: rs1353702185
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.050 1.000 5 2007 2019
dbSNP: rs1353702185
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 1.000 4 2007 2019
dbSNP: rs2279744
rs2279744
MDM2
0.605 0.640 12 68808800 intron variant T/G snv 0.31
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		0.040 1.000 4 2014 2018
dbSNP: rs2279744
rs2279744
MDM2
0.605 0.640 12 68808800 intron variant T/G snv 0.31
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.040 1.000 4 2014 2018
dbSNP: rs1353702185
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.030 1.000 3 2010 2014
dbSNP: rs1353702185
rs1353702185
MDM2
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 		0.030 1.000 3 2008 2014
dbSNP: rs2279744
rs2279744
MDM2
0.605 0.640 12 68808800 intron variant T/G snv 0.31
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.030 1.000 3 2013 2015
dbSNP: rs2279744
rs2279744
MDM2
0.605 0.640 12 68808800 intron variant T/G snv 0.31
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.030 1.000 3 2011 2014
dbSNP: rs2279744
rs2279744
MDM2
0.605 0.640 12 68808800 intron variant T/G snv 0.31
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.030 1.000 3 2013 2015
dbSNP: rs2279744
rs2279744
MDM2
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 		0.030 1.000 3 2011 2014
dbSNP: rs2279744
rs2279744
MDM2
0.605 0.640 12 68808800 intron variant T/G snv 0.31
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 1.000 3 2015 2019
dbSNP: rs937283
rs937283
MDM2
0.716 0.200 12 68808384 5 prime UTR variant A/G snv 0.37
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 1.000 3 2016 2018
dbSNP: rs937283
rs937283
MDM2
0.716 0.200 12 68808384 5 prime UTR variant A/G snv 0.37
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 1.000 3 2016 2018
dbSNP: rs937283
rs937283
MDM2
0.716 0.200 12 68808384 5 prime UTR variant A/G snv 0.37
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.030 1.000 3 2016 2018
dbSNP: rs1353702185
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.020 0.500 2 2012 2015
dbSNP: rs1353702185
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 0.500 2 2011 2015