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: rs4324798
rs4324798 		8 0.790 0.240 6 28808340 intergenic variant G/A snv 7.2E-02 0.020 1.000 2 2010 2011
dbSNP: rs10937405
rs10937405
TP63
9 0.807 0.080 3 189665394 intron variant C/T snv 0.38 0.010 < 0.001 1 2011 2011
dbSNP: rs16969968
rs16969968
CHRNA5
37 0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24 0.010 1.000 1 2011 2011
dbSNP: rs402710
rs402710
CLPTM1L
18 0.716 0.320 5 1320607 non coding transcript exon variant C/T snv 0.33 0.38 0.010 1.000 1 2011 2011
dbSNP: rs439680
rs439680 		3 1.000 0.080 5 109998341 regulatory region variant C/G snv 0.010 < 0.001 1 2011 2011
dbSNP: rs8034191
rs8034191
HYKK
24 0.695 0.440 15 78513681 intron variant T/C snv 0.27 0.010 1.000 1 2011 2011
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2006 2012
dbSNP: rs1138272
rs1138272
GSTP1
42 0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 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 2012 2012
dbSNP: rs1778335
rs1778335
PIP4K2A
1 1.000 0.080 10 22643219 intron variant T/C snv 0.27 0.010 1.000 1 2012 2012
dbSNP: rs397517097
rs397517097
EGFR
4 0.851 0.080 7 55174777 missense variant T/C snv 0.010 1.000 1 2012 2012
dbSNP: rs717620
rs717620
ABCC2
10 0.763 0.240 10 99782821 5 prime UTR variant C/T snv 0.17 0.15 0.010 1.000 1 2012 2012
dbSNP: rs7519667
rs7519667
WDR64
1 1.000 0.080 1 241722005 intron variant C/T snv 0.78 0.010 1.000 1 2012 2012
dbSNP: rs1057519847
rs1057519847
EGFR
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.030 1.000 3 2007 2013
dbSNP: rs1057519848
rs1057519848
EGFR
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.030 1.000 3 2007 2013
dbSNP: rs121434568
rs121434568
EGFR
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.030 1.000 3 2007 2013
dbSNP: rs121913444
rs121913444
EGFR
18 0.724 0.160 7 55191831 missense variant T/A;C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs401681
rs401681
CLPTM1L
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.020 0.500 2 2013 2014
dbSNP: rs121913295
rs121913295
RB1
1 1.000 0.080 13 48463741 missense variant G/T snv 0.700 1.000 1 2014 2014
dbSNP: rs36600
rs36600
MTMR3
5 0.827 0.080 22 29941597 intron variant T/C snv 0.78 0.010 1.000 1 2014 2014
dbSNP: rs74799832
rs74799832
RET
33 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs3787728
rs3787728
CBR1 ; SETD4 ; LOC100133286
5 0.851 0.080 21 36071595 intron variant T/C snv 0.74 0.010 1.000 1 2015 2015
dbSNP: rs775800262
rs775800262
EGFR
1 1.000 0.080 7 55155894 missense variant G/T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs121912651
rs121912651
TP53
53 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.710 1.000 2 1991 2016
dbSNP: rs1023835002
rs1023835002
B2M ; PATL2
10 0.763 0.280 15 44711547 start lost A/G;T snv 0.700 1.000 1 2016 2016