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: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.080 1.000 8 2009 2019
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.070 1.000 7 2003 2017
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.070 1.000 7 2003 2017
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.070 1.000 7 2003 2017
dbSNP: rs1799793
rs1799793
ERCC2
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.060 1.000 6 2002 2016
dbSNP: rs6505162
rs6505162
NSRP1 ; MIR423 ; MIR3184
25 0.695 0.320 17 30117165 5 prime UTR variant A/C;T snv 0.50; 3.1E-05 0.050 0.800 5 2013 2019
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.040 1.000 4 2002 2012
dbSNP: rs353163
rs353163
TMPRSS11A ; UBA6-AS1
4 0.882 0.080 4 67919056 missense variant T/A;C;G snv 0.67 0.040 1.000 4 2006 2013
dbSNP: rs2234922
rs2234922
EPHX1
42 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 0.030 1.000 3 2006 2019
dbSNP: rs56250509
rs56250509
MLH1
10 0.790 0.160 3 37014530 missense variant T/C snv 2.0E-05 0.030 1.000 3 2008 2012
dbSNP: rs773919809
rs773919809
MGMT
13 0.763 0.200 10 129766957 missense variant C/T snv 2.0E-05 0.030 1.000 3 2008 2012
dbSNP: rs12220909
rs12220909
FRMD4A ; MIR4293
5 0.827 0.240 10 14383222 mature miRNA variant G/C;T snv 4.9E-03 0.020 1.000 2 2015 2017
dbSNP: rs17417407
rs17417407
PLCE1
1 1.000 0.080 10 94171330 missense variant G/A;T snv 3.2E-05; 0.17 0.020 1.000 2 2012 2013
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.020 1.000 2 2007 2008
dbSNP: rs2257440
rs2257440
TNFRSF6B ; RTEL1-TNFRSF6B
1 1.000 0.080 20 63696914 missense variant C/G;T snv 0.25 0.020 1.000 2 2010 2014
dbSNP: rs3746803
rs3746803
SLC52A3
2 1.000 0.080 20 763738 missense variant G/A;C snv 0.10; 1.2E-05 0.020 1.000 2 2011 2016
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2003 2011
dbSNP: rs7813
rs7813
GEMIN4
22 0.689 0.360 17 744946 missense variant G/A;C snv 0.63 0.020 1.000 2 2014 2014
dbSNP: rs1009316
rs1009316
BAX
1 1.000 0.080 19 48955313 non coding transcript exon variant T/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs10138277
rs10138277
HEATR5A
1 1.000 0.080 14 31393927 intron variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs1029342144
rs1029342144
PTEN ; KLLN
6 0.882 0.120 10 87864162 5 prime UTR variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs104886003
rs104886003
PIK3CA
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.010 < 0.001 1 2015 2015
dbSNP: rs1063192
rs1063192
CDKN2B ; CDKN2B-AS1
24 0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs10882379
rs10882379
LOC105378438
1 1.000 0.080 10 93991742 intergenic variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs11473
rs11473
BSG
4 0.882 0.080 19 582982 3 prime UTR variant C/A;T snv 0.010 1.000 1 2016 2016