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: 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: rs861539
rs861539
60 0.561 0.464 14 103699416 missense variant G/A snp 0.29 0.29 0.030 1.000 3 2007 2017
dbSNP: rs11556218
rs11556218
13 0.715 0.393 15 81305928 missense variant T/G snp 9.6E-02 0.11 0.020 1.000 2 2009 2014
dbSNP: rs1799782
rs1799782
84 0.523 0.607 19 43553422 stop gained G/A snp 9.5E-02 7.1E-02 0.020 1.000 2 2006 2007
dbSNP: rs25487
rs25487
119 0.485 0.679 19 43551574 missense variant T/C snp 0.68 0.72 0.020 1.000 2 2006 2015
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
dbSNP: rs402710
rs402710
7 0.784 0.179 5 1320607 non coding transcript exon variant C/T snp 0.33 0.39 0.020 1.000 2 2013 2016
dbSNP: rs6774494
rs6774494
4 0.878 0.143 3 169364845 intron variant G/A snp 0.42 0.020 1.000 2 2014 2016
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: rs1042522
rs1042522
56 0.563 0.643 17 7676154 stop gained G/C,T snp 0.67 0.62 0.010 1.000 1 2014 2014
dbSNP: rs1063192
rs1063192
10 0.784 0.286 9 22003368 3 prime UTR variant G/A,T snp 0.69 0.010 1.000 1 2016 2016
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: rs11158728
rs11158728
1 1.000 0.107 14 68295488 intron variant G/A,C,T snp 1.2E-03; 0.53 0.010 1.000 1 2011 2011
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: rs1130233
rs1130233
10 0.769 0.286 14 104773557 synonymous variant C/T snp 0.30 0.23 0.010 1.000 1 2014 2014
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: rs1407019
rs1407019
1 1.000 0.107 20 33237991 intron variant G/A snp 0.27 0.010 1.000 1 2013 2013
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: rs1536826
rs1536826
1 1.000 0.107 10 133543735 intron variant A/C snp 0.63 0.010 1.000 1 2010 2010
dbSNP: rs1760944
rs1760944
7 0.784 0.250 14 20454990 5 prime UTR variant T/C,G snp 0.62 0.010 1.000 1 2018 2018
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: 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: 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: rs200172527
rs200172527
1 1.000 0.107 6 54124511 missense variant C/A snp 4.0E-06 0.010 1.000 1 1995 1995