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: rs72559716
rs72559716
3 0.882 0.120 11 17395172 missense variant C/T snv 2.2E-05 7.0E-06 0.700 1.000 7 2005 2013
dbSNP: rs139964066
rs139964066
2 0.925 0.120 11 17402671 missense variant G/A snv 5.6E-05 3.5E-05 0.700 1.000 6 2004 2015
dbSNP: rs200670692
rs200670692
2 0.925 0.120 11 17476715 missense variant A/T snv 5.8E-05 3.5E-05 0.700 1.000 6 2006 2016
dbSNP: rs863225280
rs863225280
2 0.925 0.120 11 17461722 missense variant C/T snv 0.700 1.000 6 2004 2013
dbSNP: rs1057516317
rs1057516317
2 0.925 0.120 11 17402737 frameshift variant C/- delins 2.1E-05 0.700 1.000 5 2006 2016
dbSNP: rs151344623
rs151344623
3 0.882 0.120 11 17397055 missense variant C/G;T snv 3.3E-04 0.700 1.000 4 1995 2011
dbSNP: rs72559734
rs72559734
6 0.807 0.160 11 17474955 missense variant C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 4 1998 2013
dbSNP: rs151344624
rs151344624
2 0.925 0.120 11 17395888 inframe deletion AAG/- delins 0.700 1.000 2 1996 2011
dbSNP: rs1057517420
rs1057517420
2 0.925 0.120 11 17408518 splice acceptor variant C/G snv 7.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs1568731279
rs1568731279
3 0.925 0.160 20 44414506 splice acceptor variant G/A snv 0.700 0
dbSNP: rs137852671
rs137852671
10 0.790 0.160 11 17394295 missense variant C/T snv 0.030 1.000 3 2000 2010
dbSNP: rs780813696
rs780813696
5 0.827 0.240 20 44407388 missense variant C/A;T snv 4.1E-06 7.0E-06 0.020 1.000 2 2014 2015
dbSNP: rs104894015
rs104894015
2 0.925 0.120 7 44149798 missense variant T/C snv 0.010 1.000 1 2011 2011
dbSNP: rs1057520291
rs1057520291
2 1.000 0.120 12 120989017 stop gained C/A;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs11499034
rs11499034
2 1.000 0.120 14 81506097 missense variant T/C snv 1.1E-02 9.7E-03 0.010 1.000 1 2004 2004
dbSNP: rs121913236
rs121913236
4 0.882 0.160 12 25245321 missense variant G/C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs121917757
rs121917757
4 0.851 0.200 11 534259 stop gained G/A;T snv 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs137852672
rs137852672
2 0.925 0.120 11 17463457 splice donor variant A/T snv 1.5E-04 2.2E-04 0.010 1.000 1 2000 2000
dbSNP: rs141145502
rs141145502
2 0.925 0.120 11 17387991 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1554906133
rs1554906133
2 0.925 0.120 10 87061018 missense variant T/C snv 0.010 1.000 1 2002 2002
dbSNP: rs193922587
rs193922587
2 0.925 0.160 12 120999522 missense variant C/T snv 8.1E-06 0.010 1.000 1 2019 2019
dbSNP: rs368710356
rs368710356
1 1.000 0.120 11 17397304 missense variant A/C snv 3.2E-05 2.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs387906407
rs387906407
2 0.925 0.120 11 17395610 missense variant C/G;T snv 0.010 1.000 1 2000 2000
dbSNP: rs529884745
rs529884745
2 0.925 0.160 11 17387641 missense variant C/T snv 2.0E-05 5.6E-05 0.010 1.000 1 2017 2017
dbSNP: rs750414160
rs750414160
2 0.925 0.120 11 17387224 missense variant C/A;T snv 4.0E-06; 2.0E-05 0.010 1.000 1 2011 2011