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: 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: 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: 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: rs937283
rs937283
0.716 0.200 12 68808384 5 prime UTR variant A/G snv 0.37
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.030 1.000 3 2016 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: rs367597251
rs367597251
0.807 0.080 12 68839587 missense variant A/G snv 1.5E-04 5.1E-04
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 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: rs769412
rs769412
0.851 0.200 12 68839435 synonymous variant A/G snv 5.5E-02 7.5E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2016 2016