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: rs1289543302
rs1289543302
ABCB1
12 0.763 0.440 7 87536472 missense variant C/T snv 0.010 < 0.001 1 2006 2006
dbSNP: rs140693
rs140693
MBD4
10 0.763 0.280 3 129436608 missense variant C/T snv 5.8E-02 3.1E-02 0.010 1.000 1 2006 2006
dbSNP: rs16906079
rs16906079
TLR4
1 9 117712651 missense variant A/G snv 6.5E-04 4.3E-04 0.010 1.000 1 2006 2006
dbSNP: rs762846821
rs762846821
TP53
57 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 0.080 1.000 8 2007 2016
dbSNP: rs1444669684
rs1444669684
CDKN2A ; CDKN2B-AS1
36 0.658 0.480 9 21994285 missense variant C/A;T snv 0.020 1.000 2 2007 2016
dbSNP: rs577715207
rs577715207
TP63
8 0.827 0.160 3 189886413 missense variant T/A;C snv 4.0E-06; 4.0E-06 7.0E-06 0.020 1.000 2 2007 2010
dbSNP: rs373129709
rs373129709
EGFR ; LOC105375284
7 0.827 0.120 7 55019338 missense variant G/A;T snv 1.1E-04 0.010 1.000 1 2007 2007
dbSNP: rs751144688
rs751144688
CD44
4 1.000 0.080 11 35206195 missense variant C/T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1057519747
rs1057519747
TP53
23 0.716 0.280 17 7675094 missense variant A/C;G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs11466345
rs11466345
TGFB1
2 1.000 0.080 19 41337556 intron variant T/C snv 0.12 0.010 1.000 1 2008 2008
dbSNP: rs121434592
rs121434592
AKT1
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs121912665
rs121912665
TP53
7 1.000 0.120 17 7674965 missense variant G/A snv 2.4E-05 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs146795390
rs146795390
EGFR
8 0.827 0.080 7 55191776 missense variant G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs3087386
rs3087386
REV1
8 0.790 0.160 2 99439044 missense variant A/G snv 0.58 0.61 0.010 1.000 1 2008 2008
dbSNP: rs3087399
rs3087399
REV1
4 0.882 0.120 2 99438696 missense variant T/C snv 0.13 0.17 0.010 1.000 1 2008 2008
dbSNP: rs3136038
rs3136038
ERCC4
13 0.763 0.200 16 13919522 upstream gene variant C/T snv 0.36 0.010 1.000 1 2008 2008
dbSNP: rs372043866
rs372043866
ERBB2
18 0.732 0.240 17 39727965 missense variant G/A;C;T snv 3.2E-05; 2.4E-05; 1.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs2736100
rs2736100
TERT
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.080 1.000 8 2009 2016
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 2009 2009
dbSNP: rs2227983
rs2227983
EGFR
31 0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29 0.010 1.000 1 2009 2009
dbSNP: rs750749
rs750749 		1 6 14141866 downstream gene variant T/C snv 0.27 0.010 1.000 1 2009 2009
dbSNP: rs9370729
rs9370729 		1 6 14138061 downstream gene variant C/T snv 0.44 0.010 1.000 1 2009 2009
dbSNP: rs4975616
rs4975616 		12 0.763 0.320 5 1315545 downstream gene variant G/A snv 0.51 0.020 1.000 2 2010 2013
dbSNP: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2010 2010
dbSNP: rs1227480017
rs1227480017
RRM2
1 2 10122697 synonymous variant C/A snv 0.010 1.000 1 2010 2010