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: rs8371
rs8371
XIAP
4 0.925 0.120 X 123912065 3 prime UTR variant C/T snv 0.25 0.19 0.010 1.000 1 2017 2017
dbSNP: rs9856
rs9856
XIAP
4 0.925 0.120 X 123911791 3 prime UTR variant C/T snv 0.57 0.010 1.000 1 2017 2017
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: rs2239815
rs2239815
XBP1
3 0.925 0.080 22 28796682 non coding transcript exon variant T/C snv 0.44 0.700 1.000 1 2014 2014
dbSNP: rs2267437
rs2267437
XRCC6 ; DESI1
19 0.724 0.320 22 41620695 intron variant C/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2011 2011
dbSNP: rs4822983
rs4822983
CHEK2
3 0.925 0.080 22 28719078 intron variant C/T snv 0.33 0.010 1.000 1 2015 2015
dbSNP: rs9623117
rs9623117
TNRC6B
4 0.851 0.200 22 40056115 intron variant T/C snv 0.38 0.010 1.000 1 2018 2018
dbSNP: rs2014300
rs2014300
RUNX1
5 0.851 0.080 21 34985564 intron variant A/G;T snv 0.75 0.720 1.000 3 2012 2019
dbSNP: rs766958673
rs766958673
CBS
4 0.851 0.120 21 43066293 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs13042395
rs13042395
SLC52A3
13 0.752 0.160 20 773867 intron variant C/T snv 5.9E-02 0.040 0.750 4 2015 2019
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: 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: rs16995309
rs16995309
PTPN1
4 0.882 0.280 20 50581336 missense variant C/T snv 4.8E-03 5.0E-03 0.010 1.000 1 2017 2017
dbSNP: rs17576
rs17576
MMP9
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.010 1.000 1 2008 2008
dbSNP: rs2250889
rs2250889
MMP9 ; SLC12A5-AS1
24 0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05 0.010 1.000 1 2008 2008
dbSNP: rs2273535
rs2273535
AURKA
38 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 0.010 1.000 1 2004 2004
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 2017 2017
dbSNP: rs2297441
rs2297441
TNFRSF6B ; RTEL1 ; RTEL1-TNFRSF6B
6 0.807 0.160 20 63696229 3 prime UTR variant G/A;C snv 0.010 < 0.001 1 2014 2014
dbSNP: rs2866943
rs2866943
PTPRT ; LOC101927182
1 1.000 0.080 20 42079239 3 prime UTR variant C/T snv 0.20 0.010 1.000 1 2015 2015
dbSNP: rs2904268
rs2904268 		1 1.000 0.080 20 50433551 upstream gene variant C/A;G snv 0.010 1.000 1 2017 2017
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 2016 2016
dbSNP: rs3746802
rs3746802
SLC52A3
1 1.000 0.080 20 763664 missense variant T/C snv 0.10 9.3E-02 0.010 1.000 1 2011 2011
dbSNP: rs3746804
rs3746804
SLC52A3
1 1.000 0.080 20 763771 missense variant G/A snv 0.19 0.19 0.010 1.000 1 2014 2014
dbSNP: rs6029959
rs6029959
PTPRT ; LOC101927182
1 1.000 0.080 20 42076024 3 prime UTR variant C/A;T snv 0.010 1.000 1 2015 2015