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: rs786205155
rs786205155
2 1.000 0.107 12 11884481 missense variant T/C snp 0.710 1.000 1 2016 2016
dbSNP: rs121913488
rs121913488
7 0.821 0.107 13 28018505 stop gained C/A,G,T snp 0.700 3 2001 2004
dbSNP: rs121909646
rs121909646
3 0.878 0.107 13 28018504 stop lost T/A,G snp 0.700 2 2001 2004
dbSNP: rs752746786
rs752746786
27 0.769 0.357 1 1806503 missense variant A/C,G,T snp 4.0E-06 0.700 2 2015 2017
dbSNP: rs869312821
rs869312821
6 0.923 0.107 1 1806515 missense variant T/C snp 0.700 2 2015 2017
dbSNP: rs587776834
rs587776834
1 1.000 0.107 13 28034140 inframe deletion AATC/A in-del 0.700 1 2004 2004
dbSNP: rs730881864
rs730881864
NBN
4 0.878 0.143 8 89943297 stop gained G/A,C snp 2.4E-05; 4.0E-05 0.700 1 2015 2015
dbSNP: rs767454740
rs767454740
NBN
4 0.878 0.286 8 89982736 frameshift variant GAA/G in-del 0.700 1 2015 2015
dbSNP: rs786205154
rs786205154
3 1.000 0.107 12 11885921 splice acceptor variant AAACAG/A in-del 0.700 0
dbSNP: rs397507444
rs397507444
169 0.457 0.714 1 11794407 missense variant T/G snp 0.100 0.882 17 2002 2016
dbSNP: rs121913459
rs121913459
16 0.707 0.143 9 130872896 missense variant C/T snp 0.040 1.000 4 2007 2015
dbSNP: rs1045642
rs1045642
108 0.520 0.714 7 87509329 synonymous variant A/G,T snp 0.50 0.56 0.020 1.000 2 2004 2008
dbSNP: rs116855232
rs116855232
5 0.846 0.179 13 48045719 missense variant C/T snp 2.8E-02 1.1E-02 0.020 1.000 2 2015 2016
dbSNP: rs1799945
rs1799945
152 0.475 0.679 6 26090951 missense variant C/G snp 0.11 9.9E-02 0.020 1.000 2 2005 2007
dbSNP: rs1800562
rs1800562
175 0.463 0.714 6 26092913 missense variant G/A snp 3.3E-02 3.8E-02 0.020 1.000 2 2002 2005
dbSNP: rs1801131
rs1801131
49 0.599 0.607 1 11794419 missense variant T/G snp 0.29 0.26 0.020 1.000 2 2013 2018
dbSNP: rs2032582
rs2032582
54 0.602 0.500 7 87531302 missense variant A/C,T snp 0.54; 3.8E-02 0.64; 2.5E-02 0.020 0.500 2 2008 2014
dbSNP: rs2239633
rs2239633
12 0.756 0.143 14 23119848 regulatory region variant G/A snp 0.39 0.020 1.000 2 2014 2015
dbSNP: rs3731249
rs3731249
15 0.699 0.286 9 21970917 missense variant C/A,T snp 2.1E-02 1.9E-02 0.020 1.000 2 2016 2016
dbSNP: rs3824662
rs3824662
7 0.784 0.107 10 8062245 intron variant C/A,T snp 0.17 0.020 1.000 2 2014 2018
dbSNP: rs4132601
rs4132601
6 0.821 0.143 7 50402906 3 prime UTR variant T/G snp 0.25 0.020 1.000 2 2015 2016
dbSNP: rs104893636
rs104893636
2 0.923 0.107 2 176151875 missense variant A/C,T snp 5.2E-06; 7.9E-04 5.7E-04 0.010 1.000 1 2006 2006
dbSNP: rs1051266
rs1051266
28 0.647 0.500 21 45537880 missense variant T/C,G snp 0.55; 4.4E-06 0.51 0.010 1.000 1 2011 2011
dbSNP: rs10519612
rs10519612
2 0.923 0.107 4 141732548 intron variant A/C snp 0.11 0.010 1.000 1 2015 2015
dbSNP: rs10821936
rs10821936
8 0.784 0.107 10 61963818 intron variant C/T snp 0.72 0.010 1.000 1 2014 2014