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: rs116150891
rs116150891
CDKN2A
1 1.000 0.040 9 21970929 missense variant G/A;C snv 5.6E-04 2.6E-03 0.700 0
dbSNP: rs121913082
rs121913082
FAS
2 1.000 0.040 10 89014205 missense variant A/G snv 0.700 0
dbSNP: rs121913083
rs121913083
FAS
2 1.000 0.040 10 89008907 missense variant A/G snv 0.700 0
dbSNP: rs121913084
rs121913084
FAS
2 1.000 0.040 10 89010779 missense variant T/C snv 0.700 0
dbSNP: rs201125580
rs201125580
PTCH1 ; LOC100507346
1 1.000 0.040 9 95467191 missense variant C/A;T snv 4.0E-06; 3.8E-04 0.700 0
dbSNP: rs6413464
rs6413464
CDKN2A
2 1.000 0.040 9 21970980 missense variant C/A;G snv 1.3E-03; 4.1E-06 0.700 0
dbSNP: rs779417284
rs779417284
PTCH1
1 1.000 0.040 9 95449149 missense variant C/T snv 2.4E-05 0.700 0
dbSNP: rs1258159645
rs1258159645
NQO1
37 0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06 0.010 < 0.001 1 2006 2006
dbSNP: rs1800566
rs1800566
NQO1
59 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 0.010 < 0.001 1 2006 2006
dbSNP: rs7297245
rs7297245
HAL
4 0.882 0.040 12 95980836 missense variant C/T snv 0.85 0.86 0.010 < 0.001 1 2008 2008
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.030 0.667 3 2011 2016
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.080 0.875 8 1999 2014
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.080 0.875 8 1999 2014
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.090 0.889 9 1999 2018
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.050 1.000 5 2012 2017
dbSNP: rs1057519847
rs1057519847
EGFR
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.040 1.000 4 2013 2016
dbSNP: rs1057519848
rs1057519848
EGFR
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.040 1.000 4 2013 2016
dbSNP: rs121434568
rs121434568
EGFR
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.040 1.000 4 2013 2016
dbSNP: rs1126809
rs1126809
TYR ; LOC107984363
29 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.710 1.000 3 2009 2019
dbSNP: rs11571833
rs11571833
BRCA2
43 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.720 1.000 3 2014 2018
dbSNP: rs12203592
rs12203592
IRF4
38 0.649 0.320 6 396321 intron variant C/T snv 0.10 0.710 1.000 3 2011 2019
dbSNP: rs1799793
rs1799793
ERCC2
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.030 1.000 3 2002 2015
dbSNP: rs267598140
rs267598140
DDR2
3 0.925 0.080 1 162778600 missense variant T/A;G snv 0.700 1.000 3 2008 2013
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.030 1.000 3 2007 2018
dbSNP: rs401681
rs401681
CLPTM1L
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.030 1.000 3 2011 2014