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: rs11177386
rs11177386 		0.882 0.040 12 68820362 missense variant G/A snv
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs11177386
rs11177386 		0.882 0.040 12 68820362 missense variant G/A snv
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs11177386
rs11177386 		0.882 0.040 12 68820362 missense variant G/A snv
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs117039649
rs117039649 		0.925 0.080 12 68808776 intron variant G/C snv 2.3E-02
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2018 2018
dbSNP: rs117039649
rs117039649 		0.925 0.080 12 68808776 intron variant G/C snv 2.3E-02
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2018 2018
dbSNP: rs1196333
rs1196333 		12 68808835 intron variant T/A snv 4.8E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1196333
rs1196333 		12 68808835 intron variant T/A snv 4.8E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1293580721
rs1293580721 		0.925 0.080 12 68839568 missense variant A/G snv 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs1293580721
rs1293580721 		0.925 0.080 12 68839568 missense variant A/G snv 7.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs1353702185
rs1353702185 		0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs1353702185
rs1353702185 		0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs1353702185
rs1353702185 		0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs1353702185
rs1353702185 		0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C0343641
Disease: Human papilloma virus infection
Human papilloma virus infection 		Infections 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: 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: C2347761
Disease: Childhood Myelodysplastic Syndrome
Childhood Myelodysplastic Syndrome 		Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
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: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1353702185
rs1353702185 		0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C0023530
Disease: Leukopenia
Leukopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1353702185
rs1353702185 		0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C0746883
Disease: Febrile Neutropenia
Febrile Neutropenia 		Hemic and Lymphatic Diseases 0.010 < 0.001 1 2012 2012
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
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 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: C1853195
Disease: Prostate Cancer, Hereditary, 7
Prostate Cancer, Hereditary, 7 		Neoplasms; Male Urogenital Diseases 0.010 < 0.001 1 2010 2010
dbSNP: rs1353702185
rs1353702185 		0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs1353702185
rs1353702185 		0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs1353702185
rs1353702185 		0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.010 1.000 1 2009 2009