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: rs1057519389
rs1057519389
8 0.878 0.107 10 129957324 missense variant C/A,G,T snp 0.700 2 2015 2017
dbSNP: rs1057518699
rs1057518699
2 0.923 0.179 X 65524113 missense variant G/A snp 0.700 1 2016 2016
dbSNP: rs80356616
rs80356616
12 0.744 0.321 11 17387917 missense variant C/T snp 0.020 1.000 2 2006 2007
dbSNP: rs104894421
rs104894421
5 0.821 0.214 13 108210436 missense variant C/A,T snp 1.2E-05 3.2E-05 0.010 1.000 1 2005 2005
dbSNP: rs104894884
rs104894884
5 0.821 0.107 X 119871933 missense variant G/C snp 0.010 1.000 1 2007 2007
dbSNP: rs104894885
rs104894885
6 0.801 0.143 X 119873312 missense variant G/A,C snp 0.010 1.000 1 2007 2007
dbSNP: rs113994097
rs113994097
18 0.715 0.286 15 89323426 missense variant C/G snp 9.7E-04 1.1E-03 0.010 1.000 1 2010 2010
dbSNP: rs113994098
rs113994098
17 0.692 0.286 15 89321792 missense variant C/T snp 1.5E-04 3.5E-04 0.010 1.000 1 2010 2010
dbSNP: rs121913105
rs121913105
16 0.724 0.179 4 1806163 missense variant A/C,T snp 0.010 1.000 1 1999 1999
dbSNP: rs179363901
rs179363901
4 0.846 0.107 X 154097661 missense variant G/A snp 0.010 1.000 1 2009 2009
dbSNP: rs193929353
rs193929353
4 0.846 0.143 11 17387206 missense variant T/C,G snp 0.010 1.000 1 2005 2005
dbSNP: rs193929358
rs193929358
6 0.801 0.250 11 17387091 missense variant C/T snp 0.010 1.000 1 2007 2007
dbSNP: rs2076101
rs2076101
3 0.878 0.107 22 39049549 missense variant G/A snp 0.52 0.42 0.010 1.000 1 2016 2016
dbSNP: rs267606959
rs267606959
6 0.801 0.143 15 89318986 missense variant G/A snp 2.0E-05 0.010 1.000 1 2010 2010
dbSNP: rs34767364
rs34767364
NBN
11 0.734 0.357 8 89971232 missense variant G/A,C snp 2.5E-03 2.0E-03 0.010 1.000 1 2006 2006
dbSNP: rs752390804
rs752390804
2 0.923 0.036 16 28873554 missense variant G/A snp 0.010 1.000 1 2014 2014
dbSNP: rs79184941
rs79184941
29 0.638 0.321 10 121520163 missense variant G/A,C snp 5.6E-05; 4.0E-06 3.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs80356611
rs80356611
8 0.801 0.250 11 17387943 missense variant C/G,T snp 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs80356624
rs80356624
15 0.734 0.250 11 17387490 missense variant C/A,T snp 0.010 1.000 1 2006 2006
dbSNP: rs80356730
rs80356730
8 0.769 0.107 1 11022418 missense variant A/G snp 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs879255597
rs879255597
3 0.878 0.071 18 58390667 missense variant G/A snp 0.010 1.000 1 2018 2018