Gene: MDM2 ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2279744
rs2279744
MDM2
48 0.605 0.640 12 68808800 intron variant T/G snv 0.31 0.090 1.000 9 2011 2019
dbSNP: rs117039649
rs117039649
MDM2
4 0.925 0.080 12 68808776 intron variant G/C snv 2.3E-02 0.050 1.000 5 2012 2019
dbSNP: rs1353702185
rs1353702185
MDM2
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.050 1.000 5 2007 2019
dbSNP: rs937283
rs937283
MDM2
19 0.716 0.200 12 68808384 5 prime UTR variant A/G snv 0.37 0.030 1.000 3 2016 2018
dbSNP: rs1196333
rs1196333
MDM2
2 12 68808835 intron variant T/A snv 4.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs367597251
rs367597251
MDM2
10 0.807 0.080 12 68839587 missense variant A/G snv 1.5E-04 5.1E-04 0.010 1.000 1 2019 2019
dbSNP: rs761546875
rs761546875
MDM2
3 12 68816914 missense variant G/C snv 4.0E-06 0.010 < 0.001 1 2019 2019
dbSNP: rs769412
rs769412
MDM2
6 0.851 0.200 12 68839435 synonymous variant A/G snv 5.5E-02 7.5E-02 0.010 1.000 1 2016 2016