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: rs2271338
rs2271338
ADGRL3
5 0.827 0.080 4 61996533 intron variant G/A snv 0.26 0.010 1.000 1 2016 2016
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: rs17522122
rs17522122
AKAP6
5 0.925 0.040 14 32833676 3 prime UTR variant G/T snv 0.41 0.010 1.000 1 2019 2019
dbSNP: rs4261436
rs4261436
AKAP6
3 0.925 0.040 14 32830276 3 prime UTR variant T/C snv 0.43 0.010 1.000 1 2019 2019
dbSNP: rs1801516
rs1801516
ATM
39 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.010 1.000 1 2008 2008
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: 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: 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: 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: 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
dbSNP: rs869320694
rs869320694
FGFR1
16 0.742 0.520 8 38414790 missense variant T/C snv 0.700 1.000 1 2016 2016
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: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2010 2010
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: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 1.000 1 2009 2009
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: 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: 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: rs118101777
rs118101777
IDH2
42 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.030 0.667 3 2015 2018
dbSNP: rs1801275
rs1801275
IL4R
58 0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 0.010 1.000 1 2016 2016
dbSNP: rs1870377
rs1870377
KDR
25 0.695 0.520 4 55106807 missense variant T/A snv 0.22 0.20 0.010 1.000 1 2016 2016
dbSNP: rs2071559
rs2071559
KDR
26 0.667 0.680 4 55126199 upstream gene variant A/G snv 0.53 0.010 1.000 1 2016 2016