MDM2, MDM2 proto-oncogene, 4193

N. diseases: 702; N. variants: 30
Disease: Osteosarcoma ×
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: 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: rs2279744
rs2279744 		0.605 0.640 12 68808800 intron variant T/G snv 0.31
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.020 < 0.001 2 2014 2016
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: 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: 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
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: 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: rs367597251
rs367597251 		0.807 0.080 12 68839587 missense variant A/G snv 1.5E-04 5.1E-04
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs756673959
rs756673959 		0.882 0.040 12 68828867 stop lost T/G snv
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.010 1.000 1 2019 2019