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: rs2094258
rs2094258
20 0.701 0.280 13 102844409 intron variant C/T snv 0.18 0.010 1.000 1 2015 2015
dbSNP: rs7201637
rs7201637
2 1.000 16 82081670 intron variant T/A snv 9.0E-02 0.010 1.000 1 2013 2013
dbSNP: rs391745
rs391745
3 0.925 0.080 X 97839482 intergenic variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs121434569
rs121434569
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.100 1.000 11 2009 2019
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.050 1.000 5 2006 2018
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.050 1.000 5 2006 2018
dbSNP: rs1057519847
rs1057519847
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.040 1.000 4 2011 2019
dbSNP: rs1057519848
rs1057519848
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.040 1.000 4 2011 2019
dbSNP: rs121434568
rs121434568
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.040 1.000 4 2011 2019
dbSNP: rs61731956
rs61731956
3 0.925 0.080 11 47268596 missense variant G/A snv 2.2E-04 2.6E-04 0.020 1.000 2 2016 2016
dbSNP: rs104893877
rs104893877
59 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs1057519698
rs1057519698
ALK
8 0.827 0.120 2 29222347 missense variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1057519783
rs1057519783
ALK
10 0.851 0.080 2 29220747 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs1057519861
rs1057519861
15 0.776 0.080 7 55181398 missense variant T/A snv 0.010 1.000 1 2017 2017
dbSNP: rs1057519864
rs1057519864
AR
8 0.851 0.080 X 67723707 missense variant T/C snv 0.010 1.000 1 2013 2013
dbSNP: rs121908585
rs121908585
9 0.827 0.080 4 54285926 missense variant A/T snv 0.010 1.000 1 2017 2017
dbSNP: rs121912433
rs121912433
7 0.827 0.120 21 31663841 missense variant G/A snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs121912436
rs121912436
7 0.827 0.080 21 31667274 missense variant G/A;C snv 0.010 1.000 1 1997 1997
dbSNP: rs121912456
rs121912456
6 0.851 0.120 21 31659806 missense variant G/C snv 0.010 1.000 1 2005 2005
dbSNP: rs121913279
rs121913279
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1405999227
rs1405999227
3 0.925 0.160 7 55156637 missense variant A/G snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2010 2010
dbSNP: rs2640
rs2640
3 0.925 0.080 7 6026819 missense variant T/C snv 9.0E-02 5.5E-02 0.010 1.000 1 2017 2017
dbSNP: rs28933979
rs28933979
TTR
70 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2007 2007
dbSNP: rs28937900
rs28937900
37 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.010 1.000 1 2003 2003