Source: BEFREE

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: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.100 1.000 18 2011 2019
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.080 1.000 8 2011 2019
dbSNP: rs121913377
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.080 1.000 8 2011 2019
dbSNP: rs118101777
rs118101777
IDH2
0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.050 0.800 5 2013 2017
dbSNP: rs28934576
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.040 1.000 4 2009 2018
dbSNP: rs1057519903
rs1057519903
H3-3A
0.683 0.080 1 226064434 missense variant A/T snv
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.030 1.000 3 2016 2017
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.030 1.000 3 2012 2016
dbSNP: rs1273593548
rs1273593548
PIK3CG
0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.020 0.500 2 2007 2017
dbSNP: rs16906252
rs16906252
MGMT
0.732 0.200 10 129467281 synonymous variant C/T snv 5.5E-02 5.1E-02
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.020 1.000 2 2013 2015
dbSNP: rs1695
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.020 1.000 2 2010 2018
dbSNP: rs25487
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.020 1.000 2 2013 2016
dbSNP: rs1005230
rs1005230
VEGFA
0.827 0.040 6 43768759 upstream gene variant T/C snv 0.60
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 1.000 1 2018 2018
dbSNP: rs1029044314
rs1029044314
DDR1
0.851 0.040 6 30898095 missense variant G/A snv
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 1.000 1 2017 2017
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 1.000 1 2013 2013
dbSNP: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 < 0.001 1 2005 2005
dbSNP: rs104893877
rs104893877
SNCA
0.614 0.360 4 89828149 missense variant C/T snv
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 1.000 1 2016 2016
dbSNP: rs1128503
rs1128503
ABCB1
0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 1.000 1 2009 2009
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 1.000 1 2013 2013
dbSNP: rs1135401891
rs1135401891
BRCA2
0.790 0.280 13 32332796 frameshift variant -/CT ins
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 1.000 1 2018 2018
dbSNP: rs11554137
rs11554137
IDH1
0.742 0.040 2 208248468 synonymous variant G/A snv 5.1E-02 6.8E-02
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 1.000 1 2018 2018
dbSNP: rs11571833
rs11571833
BRCA2
0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 < 0.001 1 2016 2016
dbSNP: rs11615
rs11615
ERCC1
0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 1.000 1 2014 2014
dbSNP: rs1205454520
rs1205454520
PTEN ; KLLN
0.763 0.120 10 87864059 5 prime UTR variant -/G delins 7.2E-06
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 < 0.001 1 2007 2007
dbSNP: rs121909218
rs121909218
PTEN
0.672 0.360 10 87933145 missense variant G/A snv
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 1.000 1 2002 2002
dbSNP: rs121912438
rs121912438
SOD1
0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 1.000 1 2004 2004