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: rs1136410
rs1136410
PARP1
0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 1.000 1 2009 2009
dbSNP: rs121912660
rs121912660
TP53
0.683 0.240 17 7673781 missense variant C/A;G;T snv
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 1.000 1 2009 2009
dbSNP: rs200187877
rs200187877
PPARGC1A
0.851 0.040 4 23795829 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 1.000 1 2009 2009
dbSNP: rs375391381
rs375391381
FRMD5
0.851 0.040 15 43883735 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 1.000 1 2009 2009
dbSNP: rs63750949
rs63750949
MSH6 ; FBXO11
0.827 0.080 2 47806213 missense variant C/A;T snv
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 1.000 1 2009 2009
dbSNP: rs7003908
rs7003908
PRKDC
0.716 0.320 8 47858141 intron variant C/A snv 0.66
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 1.000 1 2009 2009
dbSNP: rs760043106
rs760043106
TP53
0.645 0.440 17 7674947 missense variant A/C;G;T snv
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 1.000 1 2009 2009
dbSNP: rs764803020
rs764803020
TP53
0.851 0.040 17 7673750 frameshift variant -/TTTCCGCCGG delins 4.0E-06
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 1.000 1 2009 2009
dbSNP: rs781490101
rs781490101
TP53
0.851 0.040 17 7673748 missense variant T/C snv 8.0E-06
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 1.000 1 2009 2009
dbSNP: rs55819519
rs55819519
TP53
0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.080 0.875 8 2010 2016
dbSNP: rs1695
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.030 1.000 3 2010 2018
dbSNP: rs2297440
rs2297440
RTEL1 ; RTEL1-TNFRSF6B
0.763 0.080 20 63680946 intron variant T/C snv 0.81
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.730 1.000 3 2010 2018
dbSNP: rs891835
rs891835
CCDC26
0.851 0.120 8 129479506 intron variant T/G snv 0.17
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.020 1.000 2 2010 2014
dbSNP: rs10464870
rs10464870
CCDC26
0.882 0.040 8 129465577 intron variant C/T snv 0.80
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 1.000 1 2010 2010
dbSNP: rs11670188
rs11670188
BTBD2
0.925 0.040 19 2014038 non coding transcript exon variant A/G snv 0.16
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 1.000 1 2010 2010
dbSNP: rs1210653597
rs1210653597
CDKN2A
0.925 0.120 9 21968756 missense variant T/C snv
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 1.000 1 2010 2010
dbSNP: rs587782144
rs587782144
TP53
0.807 0.160 17 7675139 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 1.000 1 2010 2010
dbSNP: rs7325927
rs7325927
FAM155A ; FAM155A-IT1
0.925 0.040 13 107823165 intron variant C/T snv 0.38
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 1.000 1 2010 2010
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.090 1.000 9 2011 2019
dbSNP: rs121913377
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.090 1.000 9 2011 2019
dbSNP: rs2736100
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.020 1.000 2 2011 2015
dbSNP: rs498872
rs498872
PHLDB1
0.776 0.240 11 118606652 5 prime UTR variant A/G;T snv
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.020 1.000 2 2011 2015
dbSNP: rs6010620
rs6010620
RTEL1 ; RTEL1-TNFRSF6B
0.701 0.360 20 63678486 intron variant A/C;G snv
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.020 1.000 2 2011 2015
dbSNP: rs11515
rs11515
CDKN2A ; CDKN2A-DT
0.882 0.040 9 21968200 3 prime UTR variant C/A;G snv 4.0E-06; 0.88
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		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: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 1.000 1 2011 2011