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: rs132770
rs132770
XRCC6 ; DESI1
14 0.752 0.320 22 41621260 5 prime UTR variant A/G snv 0.83 0.010 1.000 1 2008 2008
dbSNP: rs132774
rs132774
XRCC6
9 0.776 0.280 22 41635949 intron variant C/G snv 0.69 0.010 1.000 1 2008 2008
dbSNP: rs135745
rs135745 		13 0.763 0.200 22 38287631 downstream gene variant G/C snv 0.48 0.010 1.000 1 2019 2019
dbSNP: rs2267437
rs2267437
XRCC6 ; DESI1
19 0.724 0.320 22 41620695 intron variant C/A;G snv 0.010 1.000 1 2008 2008
dbSNP: rs5751129
rs5751129
XRCC6 ; DESI1
14 0.752 0.320 22 41619761 intron variant C/T snv 0.69 0.010 1.000 1 2008 2008
dbSNP: rs8190315
rs8190315
BID
5 0.851 0.240 22 17743998 missense variant T/C snv 2.4E-02 3.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs9862
rs9862
TIMP3 ; SYN3
3 1.000 0.080 22 32857293 missense variant T/A;C snv 4.0E-06; 0.55 0.010 1.000 1 2015 2015
dbSNP: rs1237063529
rs1237063529
CBS
13 0.752 0.360 21 43058894 missense variant T/G snv 5.6E-06 0.010 1.000 1 2016 2016
dbSNP: rs777919630
rs777919630
CBS
40 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs2273535
rs2273535
AURKA
38 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 0.020 1.000 2 2015 2019
dbSNP: rs1047972
rs1047972
AURKA
19 0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84 0.010 1.000 1 2019 2019
dbSNP: rs2296241
rs2296241
CYP24A1
12 0.763 0.200 20 54169680 synonymous variant G/A snv 0.49 0.51 0.010 1.000 1 2012 2012
dbSNP: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.010 1.000 1 2017 2017
dbSNP: rs6021247
rs6021247
NFATC2
7 1.000 0.080 20 51492442 intron variant G/A snv 0.65 0.010 1.000 1 2020 2020
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.080 0.750 8 2008 2015
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.040 0.750 4 2013 2014
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.030 0.333 3 2007 2013
dbSNP: rs1047781
rs1047781
FUT2 ; LOC105447645
11 0.790 0.200 19 48703374 missense variant A/T snv 3.6E-02 1.2E-02 0.010 1.000 1 2016 2016
dbSNP: rs1406
rs1406
CCNE1
4 0.882 0.120 19 29824205 3 prime UTR variant C/A snv 0.28 0.010 1.000 1 2014 2014
dbSNP: rs1799793
rs1799793
ERCC2
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 < 0.001 1 2013 2013
dbSNP: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.010 < 0.001 1 2014 2014
dbSNP: rs281377
rs281377
FUT2 ; LOC105447645
4 0.925 0.120 19 48703346 synonymous variant C/T snv 0.49 0.42 0.010 1.000 1 2016 2016
dbSNP: rs33438
rs33438
ZNF536
2 1.000 0.080 19 30454165 intron variant G/A snv 0.50 0.010 1.000 1 2020 2020
dbSNP: rs1373756
rs1373756 		2 1.000 0.120 18 52259936 intergenic variant C/T snv 0.24 0.010 1.000 1 2017 2017
dbSNP: rs1473418
rs1473418
BCL2
2 1.000 0.080 18 63319316 5 prime UTR variant C/G snv 0.98 0.010 1.000 1 2015 2015