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: rs473543
rs473543
ATG5
2 0.925 0.080 6 106327811 upstream gene variant A/C;G snv 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: rs17217772
rs17217772
MSH2
10 0.790 0.240 2 47410107 missense variant A/C;G;T snv 5.8E-03 0.010 1.000 1 2015 2015
dbSNP: rs1064793184
rs1064793184
MSH6 ; FBXO11
4 0.851 0.080 2 47791055 missense variant A/G snv 0.010 1.000 1 2014 2014
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: rs11615
rs11615
ERCC1
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2018 2018
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: 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: 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: rs718282
rs718282 		2 0.925 0.080 7 152638744 intergenic variant A/G snv 0.94 0.010 1.000 1 2015 2015
dbSNP: rs780439043
rs780439043
EGFR
3 0.925 0.080 7 55205301 missense variant A/G snv 8.0E-06 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs1219648
rs1219648
FGFR2
17 0.716 0.320 10 121586676 intron variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs184967
rs184967
MSH3
2 0.925 0.080 5 80854162 missense variant A/G;T snv 0.87 0.010 1.000 1 2014 2014
dbSNP: rs80350973
rs80350973
LOC730100
2 0.925 0.080 2 52252219 intron variant A/T snv 2.1E-05 0.010 < 0.001 1 2017 2017
dbSNP: rs8176318
rs8176318
BRCA1
6 0.807 0.120 17 43045257 3 prime UTR variant C/A snv 0.34 0.29 0.010 1.000 1 2014 2014
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: 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: rs3212986
rs3212986
ERCC1 ; CD3EAP
42 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 0.010 1.000 1 2018 2018
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: 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: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2014 2014
dbSNP: rs527616
rs527616
AQP4-AS1
4 0.851 0.080 18 26757460 intron variant C/G snv 0.71 0.010 1.000 1 2017 2017
dbSNP: rs7250266
rs7250266
BABAM1 ; USHBP1
2 0.925 0.080 19 17266803 intron variant C/G snv 8.5E-02 0.010 1.000 1 2016 2016
dbSNP: rs769772228
rs769772228
CXCR4
2 0.925 0.080 2 136115346 missense variant C/G snv 2.0E-05 4.9E-05 0.010 1.000 1 2019 2019
dbSNP: rs1412125
rs1412125
HMGB1
17 0.724 0.360 13 30467458 intron variant C/G;T snv 0.010 1.000 1 2018 2018