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: rs397517096
rs397517096
EGFR
4 0.851 0.120 7 55174776 missense variant TT/CC mnv 0.020 1.000 2 2015 2019
dbSNP: rs121913469
rs121913469
ERBB2
11 0.763 0.240 17 39723966 missense variant TT/CC mnv 0.700 0
dbSNP: rs1057519848
rs1057519848
EGFR
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.100 1.000 58 2005 2020
dbSNP: rs10248565
rs10248565
HDAC9
3 1.000 0.040 7 18935100 intron variant T/G snv 0.14 0.010 1.000 1 2014 2014
dbSNP: rs1057519045
rs1057519045
FGFR2
6 0.851 0.160 10 121498522 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519876
rs1057519876
ARAF
3 0.882 0.160 X 47566721 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519901
rs1057519901
FGFR2
5 0.925 0.080 10 121498525 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519908
rs1057519908
MAP2K1
4 0.882 0.120 15 66435105 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519932
rs1057519932
PIK3CA
22 0.683 0.320 3 179234298 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520003
rs1057520003
TP53
20 0.695 0.320 17 7675996 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs11119608
rs11119608
KCNH1
17 0.708 0.280 1 210816167 intron variant T/G snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs2279744
rs2279744
MDM2
48 0.605 0.640 12 68808800 intron variant T/G snv 0.31 0.010 1.000 1 2013 2013
dbSNP: rs238406
rs238406
ERCC2
23 0.677 0.480 19 45365051 synonymous variant T/G snv 0.58 0.65 0.010 1.000 1 2017 2017
dbSNP: rs3117582
rs3117582
BAG6 ; APOM
14 0.716 0.440 6 31652743 intron variant T/G snv 7.1E-02 0.800 1.000 1 2009 2009
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 < 0.001 1 2018 2018
dbSNP: rs397517126
rs397517126
EGFR
1 1.000 0.040 7 55191746 missense variant T/G snv 0.010 1.000 1 2018 2018
dbSNP: rs55853698
rs55853698
CHRNA5
5 0.882 0.080 15 78565597 5 prime UTR variant T/G snv 0.25 0.010 1.000 1 2013 2013
dbSNP: rs7775397
rs7775397
TSBP1 ; TSBP1-AS1
7 0.790 0.400 6 32293475 missense variant T/G snv 6.0E-02 6.4E-02 0.700 1.000 1 2009 2009
dbSNP: rs7931342
rs7931342 		20 0.689 0.360 11 69227030 intergenic variant T/G snv 0.58 0.700 1.000 1 2016 2016
dbSNP: rs1131692237
rs1131692237
ERBB2 ; MIR4728
2 1.000 0.040 17 39725161 missense variant T/G snv 0.700 0
dbSNP: rs77468143
rs77468143 		2 0.925 0.080 15 49084427 intergenic variant T/C;G snv 0.700 1.000 2 2017 2019
dbSNP: rs1057519879
rs1057519879
B2M ; PATL2
10 0.763 0.280 15 44711548 start lost T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519941
rs1057519941
PIK3CA
10 0.776 0.240 3 179203761 missense variant T/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs1057519999
rs1057519999
TP53
12 0.763 0.160 17 7674247 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1150752
rs1150752
TNXB
3 0.882 0.240 6 32096949 missense variant T/C;G snv 5.9E-02 0.700 1.000 1 2009 2009