Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121913500
rs121913500
IDH1
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.800 0.923 13 2009 2018
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.080 1.000 8 2010 2019
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.080 1.000 8 2010 2019
dbSNP: rs121913499
rs121913499
IDH1
51 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.720 1.000 4 2009 2014
dbSNP: rs1057519903
rs1057519903
H3-3A
28 0.683 0.080 1 226064434 missense variant A/T snv 0.720 1.000 3 2013 2016
dbSNP: rs1040177874
rs1040177874
IDH1
2 0.925 0.040 2 208239914 missense variant G/A snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2005 2005
dbSNP: rs1057519897
rs1057519897
FGFR1
6 0.807 0.240 8 38414788 missense variant C/G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057519898
rs1057519898
FGFR1
5 0.851 0.120 8 38417333 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519899
rs1057519899
FGFR1
5 0.851 0.120 8 38417879 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2005 2005
dbSNP: rs121918464
rs121918464
PTPN11
25 0.708 0.440 12 112450406 missense variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs121918465
rs121918465
PTPN11
7 0.827 0.200 12 112450407 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs137852972
rs137852972
BSCL2 ; HNRNPUL2-BSCL2
10 0.752 0.240 11 62702499 missense variant T/C snv 1.6E-05 0.010 1.000 1 2013 2013
dbSNP: rs2305948
rs2305948
KDR
18 0.732 0.400 4 55113391 missense variant C/A;T snv 4.0E-06; 0.11 0.010 1.000 1 2016 2016
dbSNP: rs2378456
rs2378456
LPP
6 0.807 0.200 3 188885218 3 prime UTR variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs281865545
rs281865545
PECAM1
18 0.695 0.360 17 64377836 missense variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs2853676
rs2853676
TERT
29 0.667 0.560 5 1288432 intron variant T/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs5050
rs5050
AGT
7 0.827 0.200 1 230714140 intron variant T/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs55832599
rs55832599
TP53
18 0.716 0.360 17 7673821 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs58064122
rs58064122
GFAP
3 0.882 0.160 17 44913334 missense variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs6010620
rs6010620
RTEL1 ; RTEL1-TNFRSF6B
21 0.701 0.360 20 63678486 intron variant A/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs751857027
rs751857027
QTRT1
2 0.925 0.120 19 10707507 missense variant C/G;T snv 1.2E-05; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs773442580
rs773442580
EGF
7 0.851 0.080 4 109913367 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs779707422
rs779707422
FGFR1
12 0.763 0.280 8 38417331 missense variant G/A;T snv 4.0E-06 0.700 1.000 1 2016 2016