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: 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: 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: rs542860790
rs542860790 		12 68839425 missense variant C/A;T snv 3.6E-05 7.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2017 2017
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: 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
dbSNP: rs1690916
rs1690916 		0.882 0.040 12 68841626 3 prime UTR variant G/A snv 0.35
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		Neoplasms 0.020 0.500 2 2014 2016
dbSNP: rs1690916
rs1690916 		0.882 0.040 12 68841626 3 prime UTR variant G/A snv 0.35
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		Neoplasms 0.020 0.500 2 2014 2016
dbSNP: rs1690916
rs1690916 		0.882 0.040 12 68841626 3 prime UTR variant G/A snv 0.35
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.020 0.500 2 2014 2016
dbSNP: rs780673045
rs780673045 		0.882 0.040 12 68839592 missense variant A/G snv 1.2E-05
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		Neoplasms 0.020 1.000 2 1999 2004
dbSNP: rs780673045
rs780673045 		0.882 0.040 12 68839592 missense variant A/G snv 1.2E-05
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.020 1.000 2 1999 2004
dbSNP: rs780673045
rs780673045 		0.882 0.040 12 68839592 missense variant A/G snv 1.2E-05
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		Neoplasms 0.020 1.000 2 1999 2004
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: rs1690916
rs1690916 		0.882 0.040 12 68841626 3 prime UTR variant G/A snv 0.35
CUI: C0005967
Disease: Bone neoplasms
Bone neoplasms 		Neoplasms; Musculoskeletal Diseases 0.010 1.000 1 2014 2014
dbSNP: rs199812774
rs199812774 		0.882 0.040 12 68839357 synonymous variant T/C snv 1.8E-04 2.4E-04
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs199812774
rs199812774 		0.882 0.040 12 68839357 synonymous variant T/C snv 1.8E-04 2.4E-04
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs199812774
rs199812774 		0.882 0.040 12 68839357 synonymous variant T/C snv 1.8E-04 2.4E-04
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs201821879
rs201821879 		0.882 0.040 12 68809237 missense variant C/T snv 1.6E-04 1.9E-04
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs201821879
rs201821879 		0.882 0.040 12 68809237 missense variant C/T snv 1.6E-04 1.9E-04
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs201821879
rs201821879 		0.882 0.040 12 68809237 missense variant C/T snv 1.6E-04 1.9E-04
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		Neoplasms 0.010 1.000 1 2013 2013