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: rs494560
rs494560
PHLDB1
1.000 0.040 11 118650844 non coding transcript exon variant A/G snv 0.57
CUI: C0017638
Disease: Glioma
Glioma 		0.710 1.000 1 2011 2012
dbSNP: rs634537
rs634537
CDKN2B-AS1
0.851 0.080 9 22032153 intron variant T/G snv 0.28
CUI: C0017638
Disease: Glioma
Glioma 		0.710 1.000 1 2017 2019
dbSNP: rs121913377
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0017638
Disease: Glioma
Glioma 		0.100 1.000 19 2011 2020
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0017638
Disease: Glioma
Glioma 		0.100 1.000 18 2011 2020
dbSNP: rs25487
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0017638
Disease: Glioma
Glioma 		0.100 0.933 15 2010 2017
dbSNP: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0017638
Disease: Glioma
Glioma 		0.100 0.929 14 2010 2017
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0017638
Disease: Glioma
Glioma 		0.100 1.000 11 2005 2017
dbSNP: rs25489
rs25489
XRCC1
0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02
CUI: C0017638
Disease: Glioma
Glioma 		0.090 0.889 9 2012 2017
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0017638
Disease: Glioma
Glioma 		0.080 0.625 8 2008 2018
dbSNP: rs1136410
rs1136410
PARP1
0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C0017638
Disease: Glioma
Glioma 		0.080 1.000 8 2009 2019
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C0017638
Disease: Glioma
Glioma 		0.080 0.875 8 2012 2017
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0017638
Disease: Glioma
Glioma 		0.070 0.571 7 2008 2018
dbSNP: rs3212986
rs3212986
ERCC1 ; CD3EAP
0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06
CUI: C0017638
Disease: Glioma
Glioma 		0.070 0.857 7 2014 2017
dbSNP: rs55819519
rs55819519
TP53
0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04
CUI: C0017638
Disease: Glioma
Glioma 		0.070 1.000 7 2010 2019
dbSNP: rs878854066
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C0017638
Disease: Glioma
Glioma 		0.070 0.571 7 2008 2018
dbSNP: rs1800067
rs1800067
ERCC4
0.716 0.320 16 13935176 missense variant G/A snv 5.6E-02 5.3E-02
CUI: C0017638
Disease: Glioma
Glioma 		0.060 1.000 6 2013 2017
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77
CUI: C0017638
Disease: Glioma
Glioma 		0.060 1.000 6 2010 2018
dbSNP: rs1057519903
rs1057519903
H3-3A
0.683 0.080 1 226064434 missense variant A/T snv
CUI: C0017638
Disease: Glioma
Glioma 		0.050 0.800 5 2016 2020
dbSNP: rs118101777
rs118101777
IDH2
0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03
CUI: C0017638
Disease: Glioma
Glioma 		0.050 1.000 5 2014 2019
dbSNP: rs1801275
rs1801275
IL4R
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C0017638
Disease: Glioma
Glioma 		0.050 1.000 5 2011 2016
dbSNP: rs12917
rs12917
MGMT ; LOC105378560
0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14
CUI: C0017638
Disease: Glioma
Glioma 		0.040 1.000 4 2009 2018
dbSNP: rs1695
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0017638
Disease: Glioma
Glioma 		0.040 0.500 4 2003 2014
dbSNP: rs1799793
rs1799793
ERCC2
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29
CUI: C0017638
Disease: Glioma
Glioma 		0.040 0.500 4 2012 2017
dbSNP: rs730437
rs730437
EGFR
0.925 0.120 7 55147325 intron variant A/C snv 0.51
CUI: C0017638
Disease: Glioma
Glioma 		0.040 0.750 4 2012 2017
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0017638
Disease: Glioma
Glioma 		0.030 0.667 3 2013 2018