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: rs10771399
rs10771399 		5 0.827 0.080 12 28002147 intergenic variant A/G snv 8.9E-02 0.700 1.000 1 2014 2014
dbSNP: rs1360485
rs1360485
HMGB1
16 0.742 0.320 13 30457747 3 prime UTR variant C/T snv 0.58 0.010 1.000 1 2018 2018
dbSNP: rs1412125
rs1412125
HMGB1
17 0.724 0.360 13 30467458 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs2249825
rs2249825
HMGB1
23 0.695 0.440 13 30463766 5 prime UTR variant G/A;C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs2491231
rs2491231
FLT3
2 0.925 0.080 13 28036046 splice region variant A/G snv 0.71 0.61 0.010 1.000 1 2019 2019
dbSNP: rs397507758
rs397507758
BRCA2
6 0.807 0.200 13 32339456 stop gained C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.020 1.000 2 2015 2016
dbSNP: rs144567652
rs144567652
FANCM
8 0.776 0.200 14 45198718 stop gained C/A;T snv 4.0E-06; 1.0E-03 0.010 1.000 1 2017 2017
dbSNP: rs999737
rs999737
RAD51B
8 0.776 0.200 14 68567965 intron variant C/T snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs3865014
rs3865014
GLCE
8 0.851 0.080 15 69269179 missense variant G/A snv 0.75 0.69 0.010 1.000 1 2017 2017
dbSNP: rs1651654
rs1651654
C16orf87
2 0.925 0.080 16 46822677 intron variant T/C snv 0.79 0.010 1.000 1 2018 2018
dbSNP: rs1800067
rs1800067
ERCC4
17 0.716 0.320 16 13935176 missense variant G/A snv 5.6E-02 5.3E-02 0.010 1.000 1 2014 2014
dbSNP: rs373587423
rs373587423
ERCC4
4 0.851 0.080 16 13935425 missense variant T/C snv 3.6E-05 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs3803662
rs3803662
CASC16
25 0.662 0.440 16 52552429 non coding transcript exon variant A/G snv 0.63 0.010 1.000 1 2011 2011
dbSNP: rs4784227
rs4784227
CASC16
8 0.807 0.160 16 52565276 intron variant C/T snv 0.20 0.010 1.000 1 2015 2015
dbSNP: rs11540652
rs11540652
TP53
57 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.020 1.000 2 2015 2018
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 < 0.001 1 2019 2019
dbSNP: rs1064793309
rs1064793309
BRCA1
2 0.925 0.080 17 43063889 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs1485579458
rs1485579458
ERBB2
4 0.851 0.080 17 39723921 missense variant A/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs28934576
rs28934576
TP53
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs4986850
rs4986850
BRCA1
4 0.851 0.080 17 43093454 missense variant C/A;T snv 5.8E-02 0.010 1.000 1 2013 2013
dbSNP: rs527779103
rs527779103
ERBB2
2 0.925 0.080 17 39708528 missense variant C/T snv 5.4E-04 1.4E-04 0.010 1.000 1 2018 2018
dbSNP: rs552752779
rs552752779
BRIP1
2 0.925 0.080 17 61784427 splice region variant A/C;G snv 4.0E-06; 2.1E-04 0.010 1.000 1 2018 2018
dbSNP: rs564064363
rs564064363
ERBB2
4 0.851 0.080 17 39706998 missense variant G/A;C snv 1.3E-05 0.010 1.000 1 2017 2017
dbSNP: rs772885662
rs772885662
BRCA1
2 0.925 0.080 17 43063911 synonymous variant T/C;G snv 4.0E-06; 4.0E-06 0.010 1.000 1 2012 2012