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: rs3834129
rs3834129
CASP8
38 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 0.020 1.000 2 2009 2019
dbSNP: rs386675647
rs386675647
UGT2B7
10 0.790 0.240 4 69098619 missense variant AT/TC mnv 0.020 1.000 2 2005 2008
dbSNP: rs3918242
rs3918242
MMP9
54 0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 0.020 0.500 2 2013 2017
dbSNP: rs6869366
rs6869366
XRCC4 ; TMEM167A
18 0.701 0.280 5 83075927 intron variant T/G snv 9.2E-02 0.020 1.000 2 2009 2013
dbSNP: rs8102137
rs8102137 		3 0.882 0.120 19 29805946 regulatory region variant T/C snv 0.24 0.020 1.000 2 2010 2014
dbSNP: rs10234749
rs10234749 		3 0.882 0.120 7 152690784 regulatory region variant T/C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs1024611
rs1024611 		63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2012 2012
dbSNP: rs10511729
rs10511729
LOC101929563
11 0.742 0.240 9 23557229 intron variant T/G snv 0.35 0.010 1.000 1 2014 2014
dbSNP: rs1063054
rs1063054
OSGIN2 ; NBN
6 0.807 0.160 8 89934373 3 prime UTR variant T/G snv 0.32 0.010 1.000 1 2010 2010
dbSNP: rs1063192
rs1063192
CDKN2B ; CDKN2B-AS1
24 0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs10743980
rs10743980
LRP6
4 0.882 0.120 12 12259861 intron variant T/A;C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs10759
rs10759
RGS4
4 0.851 0.160 1 163076561 3 prime UTR variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs10775480
rs10775480
SLC14A1 ; LOC105372093
3 0.882 0.120 18 45737317 intron variant T/C snv 0.61 0.010 1.000 1 2013 2013
dbSNP: rs10811474
rs10811474 		11 0.742 0.240 9 21114238 intergenic variant A/G snv 0.44 0.010 1.000 1 2014 2014
dbSNP: rs11077654
rs11077654
SLC39A11
3 0.882 0.120 17 73010373 intron variant A/C snv 0.69 0.010 1.000 1 2015 2015
dbSNP: rs1109324
rs1109324 		5 0.827 0.160 6 43762018 intergenic variant G/T snv 0.15 0.010 1.000 1 2007 2007
dbSNP: rs11191438
rs11191438
AS3MT ; BORCS7-ASMT
3 0.882 0.120 10 102878107 intron variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs11191454
rs11191454
AS3MT ; BORCS7-ASMT ; LOC107984265
9 0.776 0.160 10 102900247 intron variant A/G snv 7.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs11249206
rs11249206
RUNX3 ; LOC105376878
4 0.851 0.160 1 24951491 intron variant C/T snv 0.48 0.010 1.000 1 2008 2008
dbSNP: rs1130214
rs1130214
AKT1
12 0.742 0.280 14 104793397 5 prime UTR variant C/A snv 0.31 0.010 1.000 1 2018 2018
dbSNP: rs1141718
rs1141718
SOD2
15 0.724 0.280 6 159688224 missense variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs11466445
rs11466445
TGFBR1
5 0.851 0.160 9 99105256 inframe insertion GCGGCGGCGGCGGCG/-;GCG;GCGGCG;GCGGCGGCG;GCGGCGGCGGCG;GCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCGGCGGCG delins 0.010 < 0.001 1 2009 2009
dbSNP: rs11685387
rs11685387
XRCC5
9 0.776 0.240 2 216109091 splice region variant C/T snv 0.30 0.010 1.000 1 2009 2009
dbSNP: rs11871756
rs11871756
SLC39A11
3 0.882 0.120 17 72730105 intron variant C/G snv 0.11 0.010 1.000 1 2015 2015
dbSNP: rs1189516787
rs1189516787
CEBPA ; CEBPA-DT
3 0.882 0.120 19 33301681 missense variant C/G snv 7.1E-06 0.010 1.000 1 2014 2014