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: rs144460286
rs144460286
EGFR
2 0.925 0.080 7 55155922 missense variant A/C snv 4.0E-06 0.020 1.000 2 2016 2017
dbSNP: rs4754687
rs4754687 		1 1.000 0.080 11 100559322 intergenic variant A/C snv 0.75 0.700 1.000 1 2019 2019
dbSNP: rs61764370
rs61764370
KRAS
29 0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02 0.010 1.000 1 2012 2012
dbSNP: rs2069837
rs2069837
IL6 ; IL6-AS1
18 0.724 0.520 7 22728408 intron variant A/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 1.000 28 2009 2019
dbSNP: rs9285673
rs9285673 		1 1.000 0.080 5 148793365 regulatory region variant A/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs13402783
rs13402783
ATOH8
1 1.000 0.080 2 85787998 3 prime UTR variant A/G snv 8.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs2163746
rs2163746
SGCD
1 1.000 0.080 5 155918211 intron variant A/G snv 0.14 0.700 1.000 1 2019 2019
dbSNP: rs2366964
rs2366964
FHIT
1 1.000 0.080 3 59944946 intron variant A/G snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs368295543
rs368295543
CD38
1 1.000 0.080 4 15778625 missense variant A/G snv 1.2E-05 2.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs5749032
rs5749032 		1 1.000 0.080 22 17313079 intergenic variant A/G snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs6110524
rs6110524
MACROD2
1 1.000 0.080 20 15130492 intron variant A/G snv 0.88 0.700 1.000 1 2019 2019
dbSNP: rs7153665
rs7153665
YY1
1 1.000 0.080 14 100264583 intron variant A/G snv 0.63 0.700 1.000 1 2019 2019
dbSNP: rs756055
rs756055 		1 1.000 0.080 14 100224841 intron variant A/G snv 0.34 0.700 1.000 1 2019 2019
dbSNP: rs762513613
rs762513613
FCGR2C
11 0.752 0.280 1 161591315 missense variant A/G snv 4.2E-06 7.4E-06 0.010 1.000 1 2015 2015
dbSNP: rs879253942
rs879253942
TP53
28 0.677 0.400 17 7673826 missense variant A/G snv 0.010 1.000 1 2009 2009
dbSNP: rs885036
rs885036
MGAT4A
1 1.000 0.080 2 98688331 intron variant A/G snv 0.57 0.700 1.000 1 2015 2015
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2010 2010
dbSNP: rs121913279
rs121913279
PIK3CA
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs4239258
rs4239258
POLR2A
1 1.000 0.080 17 7493724 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs397517132
rs397517132
EGFR
48 0.623 0.280 7 55191846 missense variant A/T snv 0.100 1.000 14 2011 2019
dbSNP: rs11918092
rs11918092
EPHB1
2 0.925 0.120 3 134794514 intron variant C/A snv 0.74 0.700 1.000 1 2019 2019
dbSNP: rs5743618
rs5743618
TLR1
25 0.677 0.360 4 38797027 missense variant C/A snv 0.53 0.51 0.010 1.000 1 2016 2016
dbSNP: rs8602
rs8602
MKNK1 ; MKNK1-AS1
1 1.000 0.080 1 46557859 3 prime UTR variant C/A snv 0.22 0.010 1.000 1 2017 2017