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: 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: rs3734091
rs3734091
XRCC4
19 0.689 0.280 5 83204915 missense variant G/T snv 2.3E-02 1.4E-02 0.010 1.000 1 2014 2014
dbSNP: rs4415084
rs4415084 		6 0.827 0.080 5 44662413 upstream gene variant C/T snv 0.49 0.010 1.000 1 2018 2018
dbSNP: rs12662670
rs12662670
CCDC170
4 0.851 0.080 6 151597721 intron variant T/C;G snv 0.010 1.000 1 2011 2011
dbSNP: rs141366047
rs141366047
PRKN
3 0.882 0.120 6 161785829 missense variant G/A;C;T snv 4.0E-06; 1.2E-05; 9.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs2046210
rs2046210 		21 0.708 0.280 6 151627231 intergenic variant G/A snv 0.41 0.010 1.000 1 2011 2011
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: rs9485372
rs9485372
TAB2
6 0.807 0.120 6 149287738 intron variant G/A snv 0.20 0.010 1.000 1 2018 2018
dbSNP: rs10274701
rs10274701
EZH2
2 0.925 0.080 7 148855364 intron variant C/T snv 0.76 0.010 1.000 1 2015 2015
dbSNP: rs1057519847
rs1057519847
EGFR
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.010 1.000 1 2015 2015
dbSNP: rs1057519848
rs1057519848
EGFR
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.010 1.000 1 2015 2015
dbSNP: rs121434568
rs121434568
EGFR
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs3218536
rs3218536
XRCC2
37 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 0.010 1.000 1 2015 2015
dbSNP: rs40239
rs40239
MET
4 0.851 0.120 7 116677823 intron variant G/A snv 0.87 0.010 < 0.001 1 2019 2019
dbSNP: rs56391007
rs56391007
MET
16 0.752 0.200 7 116771936 missense variant C/T snv 7.9E-03 9.0E-03 0.010 < 0.001 1 2019 2019
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: rs1054135
rs1054135
FABP4 ; LOC101927118
5 0.851 0.240 8 81478525 3 prime UTR variant C/T snv 0.17 0.010 1.000 1 2016 2016
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: rs1801157
rs1801157
CXCL12
46 0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16 0.010 1.000 1 2018 2018
dbSNP: rs765433422
rs765433422
PTEN
7 0.807 0.160 10 87952250 stop gained G/A;T snv 8.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs769483475
rs769483475
CD44
3 0.925 0.080 11 35229231 missense variant G/A snv 8.0E-06 0.010 1.000 1 2018 2018
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