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: rs112445441
rs112445441
KRAS
32 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.020 1.000 2 2009 2020
dbSNP: rs121913500
rs121913500
IDH1
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs2555639
rs2555639 		7 0.851 0.080 4 174540379 non coding transcript exon variant T/C snv 0.38 0.010 1.000 1 2020 2020
dbSNP: rs772893086
rs772893086
ADARB1
4 0.925 0.080 21 45176099 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.876 89 2003 2019
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.875 88 2003 2019
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.090 1.000 9 2013 2019
dbSNP: rs121913227
rs121913227
BRAF
31 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.080 0.750 8 2003 2019
dbSNP: rs712
rs712
KRAS
24 0.677 0.360 12 25209618 3 prime UTR variant A/C snv 0.46 0.040 1.000 4 2014 2019
dbSNP: rs121913279
rs121913279
PIK3CA
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.030 0.667 3 2013 2019
dbSNP: rs965513
rs965513
PTCSC2
15 0.742 0.200 9 97793827 intron variant A/G;T snv 0.030 1.000 3 2014 2019
dbSNP: rs17879961
rs17879961
CHEK2
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.020 0.500 2 2016 2019
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.020 1.000 2 2015 2019
dbSNP: rs2227983
rs2227983
EGFR
31 0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29 0.020 1.000 2 2007 2019
dbSNP: rs7034162
rs7034162
NFIB
4 0.882 0.040 9 14190288 intron variant A/T snv 0.81 0.020 1.000 2 2015 2019
dbSNP: rs944289
rs944289 		16 0.742 0.200 14 36180040 upstream gene variant C/T snv 0.45 0.020 1.000 2 2015 2019
dbSNP: rs1057519783
rs1057519783
ALK
10 0.851 0.080 2 29220747 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1057519874
rs1057519874
RAC1
9 0.807 0.120 7 6387261 missense variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1057519902
rs1057519902
H3-3A
16 0.742 0.160 1 226064451 missense variant G/C snv 0.010 1.000 1 2019 2019
dbSNP: rs1057519975
rs1057519975
TP53
34 0.649 0.480 17 7675209 missense variant A/C;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs11246050
rs11246050
NLRP6
2 1.000 0.080 11 284257 synonymous variant G/A;C snv 0.16; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1131691036
rs1131691036
TP53
8 0.851 0.080 17 7675207 frameshift variant GCA/CC delins 0.010 1.000 1 2019 2019
dbSNP: rs1137282
rs1137282
KRAS
5 0.851 0.120 12 25209843 missense variant A/G;T snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs116909374
rs116909374 		11 0.776 0.120 14 36269155 regulatory region variant C/T snv 2.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs121913366
rs121913366
BRAF
12 0.763 0.400 7 140753345 missense variant A/C;T snv 0.010 1.000 1 2019 2019