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: rs1014971
rs1014971
3 0.923 0.107 22 38936618 intergenic variant C/T snp 0.55 0.010 1.000 1 2010 2010
dbSNP: rs1042028
rs1042028
20 0.685 0.321 16 28606193 missense variant C/T snp 0.22 0.31 0.020 1.000 2 2004 2014
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: rs1046428
rs1046428
3 0.923 0.107 14 77327940 missense variant T/A,C snp 4.0E-06; 0.81 0.85 0.010 1.000 1 2011 2011
dbSNP: rs104894230
rs104894230
42 0.615 0.464 11 534288 missense variant C/A,G,T snp 0.700 0
dbSNP: rs1050450
rs1050450
21 0.692 0.500 3 49357401 missense variant G/A snp 0.28 0.30 0.010 1.000 1 2014 2014
dbSNP: rs1052133
rs1052133
77 0.533 0.643 3 9757089 missense variant C/G snp 0.27 0.22 0.040 1.000 4 2007 2013
dbSNP: rs1056827
rs1056827
13 0.715 0.321 2 38075034 missense variant C/A snp 0.32 0.35 0.010 1.000 1 2017 2017
dbSNP: rs1056836
rs1056836
31 0.634 0.500 2 38071060 missense variant G/C snp 0.63 0.50 0.010 < 0.001 1 2014 2014
dbSNP: rs1063054
rs1063054
NBN
7 0.821 0.143 8 89934373 3 prime UTR variant T/G snp 0.33 0.010 1.000 1 2010 2010
dbSNP: rs10719
rs10719
9 0.801 0.179 5 31401340 3 prime UTR variant A/G,T snp 0.69 0.65 0.010 1.000 1 2014 2014
dbSNP: rs10743980
rs10743980
5 0.878 0.179 12 12259861 intron variant T/A,C,G snp 3.2E-05; 0.54 0.010 1.000 1 2016 2016
dbSNP: rs10759
rs10759
4 0.878 0.143 1 163076561 3 prime UTR variant G/A,T snp 0.26 0.010 1.000 1 2013 2013
dbSNP: rs10775480
rs10775480
3 0.923 0.107 18 45737317 intron variant T/C snp 0.61 0.010 1.000 1 2013 2013
dbSNP: rs10936599
rs10936599
13 0.734 0.393 3 169774313 synonymous variant C/T snp 0.29 0.22 0.010 1.000 1 2014 2014
dbSNP: rs11077654
rs11077654
3 0.923 0.107 17 73010373 intron variant A/C snp 0.69 0.010 1.000 1 2016 2016
dbSNP: rs1109324
rs1109324
5 0.846 0.143 6 43762018 intergenic variant G/T snp 0.15 0.010 1.000 1 2007 2007
dbSNP: rs11191439
rs11191439
4 0.923 0.107 10 102878966 missense variant T/A,C snp 9.2E-02 9.8E-02 0.010 1.000 1 2013 2013
dbSNP: rs11249206
rs11249206
5 0.846 0.143 1 24951491 intron variant C/T snp 0.49 0.010 1.000 1 2008 2008
dbSNP: rs1130409
rs1130409
45 0.590 0.500 14 20456995 missense variant T/A,C,G snp 4.0E-06; 4.0E-06; 0.42 0.44 0.010 1.000 1 2007 2007
dbSNP: rs113488022
rs113488022
267 0.407 0.786 7 140753336 missense variant snp 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1136410
rs1136410
35 0.622 0.357 1 226367601 missense variant A/G snp 0.21 0.16 0.010 1.000 1 2007 2007
dbSNP: rs11466445
rs11466445
6 0.846 0.143 9 99105274 inframe deletion CGGCGGCGGC/C in-del 0.010 < 0.001 1 2008 2008
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 2011 2011
dbSNP: rs11614913
rs11614913
49 0.585 0.607 12 53991815 mature miRNA variant C/T snp 0.39 0.35 0.010 < 0.001 1 2011 2011