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: 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: rs121913499
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 1.000 1 2011 2011
dbSNP: rs2297440
rs2297440
RTEL1 ; RTEL1-TNFRSF6B
0.763 0.080 20 63680946 intron variant T/C snv 0.81
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 1.000 1 2011 2011
dbSNP: rs2736098
rs2736098
TERT
0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 1.000 1 2011 2011
dbSNP: rs2736100
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 1.000 1 2011 2011
dbSNP: rs28934578
rs28934578
TP53
0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 1.000 1 2011 2011
dbSNP: rs3788266
rs3788266
S100B
0.732 0.160 21 46606442 upstream gene variant G/A snv 0.50
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 1.000 1 2011 2011
dbSNP: rs4295627
rs4295627
CCDC26
0.763 0.200 8 129673211 intron variant T/G snv 0.17
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 1.000 1 2011 2011
dbSNP: rs498872
rs498872
PHLDB1
0.776 0.240 11 118606652 5 prime UTR variant A/G;T snv
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 1.000 1 2011 2011
dbSNP: rs6010620
rs6010620
RTEL1 ; RTEL1-TNFRSF6B
0.701 0.360 20 63678486 intron variant A/C;G snv
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 1.000 1 2011 2011
dbSNP: rs660118
rs660118
SART1
0.807 0.080 11 65967703 missense variant G/C snv 0.46 0.36
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 1.000 1 2011 2011
dbSNP: rs745542298
rs745542298
TP73
0.807 0.080 1 3732781 missense variant G/A;T snv 8.6E-06; 4.3E-06 2.1E-05
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 1.000 1 2011 2011
dbSNP: rs769809364
rs769809364
TP73
0.807 0.080 1 3732940 missense variant G/A snv 8.5E-06 1.4E-05
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 1.000 1 2011 2011
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: rs17296479
rs17296479 		0.851 0.040 5 81411157 non coding transcript exon variant T/A snv 9.4E-02
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 1.000 1 2012 2012
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: 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: 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: 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: 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: rs121913503
rs121913503
IDH2
0.689 0.200 15 90088606 missense variant C/A;T snv
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 1.000 1 2013 2013
dbSNP: rs55819519
rs55819519
TP53
0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 1.000 1 2013 2013
dbSNP: rs878854066
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 1.000 1 2013 2013