Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121913503
rs121913503
IDH2
0.689 0.200 15 90088606 missense variant C/A;T snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 1.000 1 2013 2013
dbSNP: rs12645561
rs12645561
NEIL3
0.882 0.120 4 177339718 intron variant C/A;T snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 1.000 1 2013 2013
dbSNP: rs1800871
rs1800871
IL10 ; IL19
0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 1.000 1 2013 2013
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 1.000 1 2013 2013
dbSNP: rs2243248
rs2243248
IL4
0.763 0.240 5 132672952 upstream gene variant T/A;C;G snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 1.000 1 2013 2013
dbSNP: rs2291427
rs2291427
ALOX5
0.925 0.040 10 45440776 intron variant A/G;T snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 1.000 1 2013 2013
dbSNP: rs3829382
rs3829382
FLT3
0.925 0.040 13 28003551 3 prime UTR variant G/T snv 0.46
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 1.000 1 2013 2013
dbSNP: rs757066045
rs757066045
CDKN2A
0.882 0.040 9 21974725 missense variant C/T snv 8.2E-06
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 1.000 1 2013 2013
dbSNP: rs759927375
rs759927375
H3C1 ; H4C1
0.925 0.040 6 26020589 missense variant G/A;C snv 1.2E-05; 8.0E-06
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 1.000 1 2013 2013
dbSNP: rs878854066
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 1.000 1 2013 2013
dbSNP: rs9642393
rs9642393
EGFR
0.925 0.040 7 55177954 intron variant T/C snv 0.24
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 1.000 1 2013 2013
dbSNP: rs891835
rs891835
CCDC26
0.851 0.120 8 129479506 intron variant T/G snv 0.17
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.020 1.000 2 2010 2014
dbSNP: rs11615
rs11615
ERCC1
0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 1.000 1 2014 2014
dbSNP: rs11860248
rs11860248
RBBP6
0.882 0.040 16 24566445 intron variant T/G snv 0.27
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 1.000 1 2014 2014
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 1.000 1 2014 2014
dbSNP: rs13332653
rs13332653 		0.882 0.040 16 24578078 intergenic variant T/G snv 0.11
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 1.000 1 2014 2014
dbSNP: rs1800734
rs1800734
MLH1 ; EPM2AIP1
0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 1.000 1 2014 2014
dbSNP: rs1957106
rs1957106
NFKBIA
0.851 0.040 14 35404564 synonymous variant G/A snv 0.28 0.25
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 1.000 1 2014 2014
dbSNP: rs2033214
rs2033214
RBBP6
0.882 0.040 16 24566199 intron variant T/G snv 0.14
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 1.000 1 2014 2014
dbSNP: rs2293157
rs2293157
STAT5A
0.763 0.120 17 42300657 intron variant C/A;T snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 1.000 1 2014 2014
dbSNP: rs6470745
rs6470745
CCDC26
0.882 0.040 8 129629675 intron variant A/G snv 0.18
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 1.000 1 2014 2014
dbSNP: rs751859698
rs751859698
MSH4
0.925 0.040 1 75898031 missense variant T/A;C snv 1.2E-05
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 1.000 1 2014 2014
dbSNP: rs76151636
rs76151636
ATP7B
0.776 0.280 13 51944145 missense variant G/A;T snv 4.0E-06; 9.2E-04
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 1.000 1 2014 2014
dbSNP: rs9933544
rs9933544 		0.882 0.040 16 24576962 downstream gene variant A/C snv 0.29
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 1.000 1 2014 2014
dbSNP: rs16906252
rs16906252
MGMT
0.732 0.200 10 129467281 synonymous variant C/T snv 5.5E-02 5.1E-02
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.020 1.000 2 2013 2015