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: 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: rs3731239
rs3731239
CDKN2A
10 0.763 0.240 9 21974219 intron variant A/G snv 0.26 0.020 1.000 2 2013 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: rs3765524
rs3765524
PLCE1
17 0.724 0.320 10 94298541 missense variant C/T snv 0.27 0.31 0.020 1.000 2 2014 2017
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2003 2011
dbSNP: rs398652
rs398652 		10 0.752 0.240 14 56058851 intergenic variant G/A snv 0.24 0.020 1.000 2 2013 2014
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: rs4767364
rs4767364
NAA25
8 0.807 0.160 12 112083644 intron variant G/A snv 0.45 0.020 1.000 2 2013 2018
dbSNP: rs531564
rs531564
LINC00599 ; MIR124-1
27 0.672 0.480 8 9903189 non coding transcript exon variant G/C snv 0.14 0.020 1.000 2 2014 2018
dbSNP: rs621559
rs621559
EBNA1BP2 ; CFAP57 ; LOC105378685
5 0.827 0.080 1 43179740 intron variant G/A snv 0.18 0.020 1.000 2 2013 2014
dbSNP: rs751295137
rs751295137
EGFR
6 0.851 0.160 7 55152582 missense variant G/A snv 8.0E-06 7.0E-06 0.020 1.000 2 2007 2010
dbSNP: rs760101437
rs760101437
EGFR
6 0.851 0.160 7 55154018 missense variant G/A snv 3.2E-05 1.4E-05 0.020 1.000 2 2007 2010
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: rs873601
rs873601
ERCC5 ; BIVM-ERCC5
25 0.677 0.360 13 102875987 3 prime UTR variant G/A snv 0.59 0.020 1.000 2 2012 2016
dbSNP: rs10061133
rs10061133
CDC20B ; MIR449A ; MIR449B
4 0.851 0.160 5 55170716 mature miRNA variant A/G snv 0.11 8.6E-02 0.010 1.000 1 2015 2015
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: rs1033667
rs1033667
CHEK2
1 1.000 0.080 22 28734312 intron variant C/T snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs1035142
rs1035142
FLACC1
7 0.807 0.200 2 201288355 3 prime UTR variant T/C;G snv 0.54 0.010 1.000 1 2014 2014
dbSNP: rs1042026
rs1042026
ADH1B
2 1.000 0.080 4 99307309 3 prime UTR variant T/C snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs10484761
rs10484761 		7 0.807 0.080 6 40834522 intergenic variant T/C snv 0.31 0.010 1.000 1 2014 2014
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: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs10511729
rs10511729
LOC101929563
11 0.742 0.240 9 23557229 intron variant T/G snv 0.35 0.010 1.000 1 2014 2014