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: rs9258122
rs9258122
1 1.000 0.107 6 29703963 intergenic variant snp 0.010 1.000 1 2009 2009
dbSNP: rs1536826
rs1536826
1 1.000 0.107 10 133543735 intron variant A/C snp 0.63 0.010 1.000 1 2010 2010
dbSNP: rs80358259
rs80358259
9 0.801 0.286 18 23536736 missense variant A/G snp 2.0E-04 6.4E-05 0.020 1.000 2 2004 2011
dbSNP: rs1412829
rs1412829
8 0.801 0.321 9 22043927 intron variant A/G snp 0.30 0.010 1.000 1 2016 2016
dbSNP: rs2380165
rs2380165
BLM
3 0.878 0.143 15 90797765 intron variant A/G snp 0.38 0.010 1.000 1 2014 2014
dbSNP: rs3129055
rs3129055
2 1.000 0.107 6 29702484 regulatory region variant A/G snp 0.24 0.010 1.000 1 2009 2009
dbSNP: rs3869062
rs3869062
2 1.000 0.107 6 29967114 intron variant A/G snp 5.9E-02 0.010 1.000 1 2015 2015
dbSNP: rs9510787
rs9510787
2 1.000 0.107 13 23631056 intron variant A/G snp 0.22 0.010 1.000 1 2016 2016
dbSNP: rs4986790
rs4986790
146 0.465 0.750 9 117713024 missense variant A/G,T snp 6.1E-02; 4.0E-06 6.7E-02 0.010 1.000 1 2012 2012
dbSNP: rs10889677
rs10889677
21 0.667 0.500 1 67259437 3 prime UTR variant C/A snp 0.28 0.010 1.000 1 2013 2013
dbSNP: rs200172527
rs200172527
1 1.000 0.107 6 54124511 missense variant C/A snp 4.0E-06 0.010 1.000 1 1995 1995
dbSNP: rs31489
rs31489
10 0.769 0.214 5 1342599 intron variant C/A snp 0.42 0.010 1.000 1 2016 2016
dbSNP: rs11540654
rs11540654
117 0.492 0.679 17 7676040 missense variant C/A,G,T snp 4.8E-05 3.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs28934576
rs28934576
64 0.563 0.536 17 7673802 missense variant C/A,G,T snp 4.0E-06; 1.6E-05 0.700 1 2015 2015
dbSNP: rs1801270
rs1801270
15 0.699 0.321 6 36684194 missense variant C/A,T snp 0.15; 4.4E-05 0.14 0.010 1.000 1 1995 1995
dbSNP: rs3928672
rs3928672
1 1.000 0.107 8 140562068 intron variant C/A,T snp 0.22 0.010 1.000 1 2016 2016
dbSNP: rs11202592
rs11202592
1 1.000 0.107 10 87864461 coding sequence variant C/G snp 3.8E-03 3.3E-03 0.010 1.000 1 2014 2014
dbSNP: rs1805794
rs1805794
NBN
24 0.652 0.429 8 89978251 missense variant C/G snp 0.35 0.31 0.010 1.000 1 2011 2011
dbSNP: rs2735383
rs2735383
NBN
8 0.769 0.286 8 89935041 3 prime UTR variant C/G snp 0.32 0.010 < 0.001 1 2011 2011
dbSNP: rs2735845
rs2735845
1 1.000 0.107 5 1300469 intergenic variant C/G snp 0.16 0.010 1.000 1 2016 2016
dbSNP: rs2910164
rs2910164
82 0.525 0.750 5 160485411 mature miRNA variant C/G snp 0.71; 4.1E-06 0.71 0.010 1.000 1 2013 2013
dbSNP: rs4919510
rs4919510
19 0.685 0.464 10 100975021 mature miRNA variant C/G snp 0.27 0.27 0.010 1.000 1 2014 2014
dbSNP: rs200046052
rs200046052
2 1.000 0.107 3 49902693 missense variant C/G,T snp 1.8E-04; 3.6E-05 3.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs29232
rs29232
3 0.923 0.214 6 29643654 intergenic variant C/T snp 0.35 0.020 1.000 2 2009 2016
dbSNP: rs401681
rs401681
22 0.679 0.464 5 1321972 intron variant C/T snp 0.48 0.020 1.000 2 2014 2016