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: rs1535045
rs1535045
CD40
12 0.742 0.360 20 46119460 intron variant C/A;G;T snv 0.010 1.000 1 2016 2016
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: 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: rs17185553
rs17185553
ADAMTSL1
1 1.000 0.080 9 17934122 intron variant G/C snv 6.5E-02 0.700 1.000 1 2017 2017
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: rs17849781
rs17849781
TP53
22 0.701 0.480 17 7673788 missense variant G/A;C;T snv 0.010 1.000 1 1991 1991
dbSNP: rs1799814
rs1799814
CYP1A1
8 0.807 0.160 15 74720646 missense variant G/A;T snv 1.6E-05; 3.1E-02 0.010 1.000 1 2010 2010
dbSNP: rs1899663
rs1899663
HOTAIR
22 0.683 0.280 12 53967210 intron variant C/A snv 0.28 0.010 1.000 1 2016 2016
dbSNP: rs193920774
rs193920774
TP53
22 0.695 0.440 17 7673823 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2006 2006
dbSNP: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2005 2005
dbSNP: rs2279115
rs2279115
BCL2
18 0.724 0.320 18 63319604 5 prime UTR variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs28934576
rs28934576
TP53
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.700 1.000 1 2016 2016
dbSNP: rs3124599
rs3124599
NOTCH1
5 0.851 0.080 9 136509318 intron variant G/A snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs312599
rs312599 		1 1.000 0.080 5 143998425 intergenic variant C/T snv 0.33 0.010 1.000 1 2017 2017
dbSNP: rs3134425
rs3134425
CRTAM
1 1.000 0.080 11 122838470 intron variant T/C snv 0.67 0.700 1.000 1 2017 2017
dbSNP: rs34589476
rs34589476
MET
7 0.827 0.160 7 116771869 missense variant C/T snv 2.9E-03 3.2E-03 0.010 1.000 1 2003 2003
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: rs3756668
rs3756668
PIK3R1
5 0.925 0.160 5 68300260 3 prime UTR variant G/A;C snv 0.010 1.000 1 2016 2016
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: rs3813565
rs3813565
CHRNB4 ; LOC105370913
6 0.851 0.080 15 78727268 splice region variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs397516435
rs397516435
TP53
6 0.851 0.280 17 7674945 stop gained G/A;C snv 4.0E-06 0.010 1.000 1 1996 1996
dbSNP: rs397517097
rs397517097
EGFR
4 0.851 0.080 7 55174777 missense variant T/C snv 0.010 1.000 1 2012 2012
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: rs4353229
rs4353229
CASP7
6 0.807 0.160 10 113729830 3 prime UTR variant T/C snv 0.23 0.010 1.000 1 2016 2016