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: rs1008906426
rs1008906426
1 1.000 0.120 11 17394412 intron variant C/G;T snv 4.0E-06; 4.0E-06; 2.0E-05 0.700 1.000 2 2013 2013
dbSNP: rs137852676
rs137852676
3 0.882 0.160 11 17395852 stop gained C/A;T snv 1.5E-05 0.700 1.000 20 1996 2015
dbSNP: rs1057516281
rs1057516281
2 0.925 0.120 11 17398344 stop gained G/A snv 1.4E-05 0.700 1.000 5 2006 2014
dbSNP: rs769518471
rs769518471
1 1.000 0.120 11 17407058 stop gained G/A snv 1.2E-05 7.0E-06 0.700 1.000 3 2011 2015
dbSNP: rs1057516718
rs1057516718
1 1.000 0.120 11 17397014 stop gained G/A snv 0.700 1.000 2 2013 2014
dbSNP: rs1057516585
rs1057516585
1 1.000 0.120 11 17406942 stop gained C/T snv 0.700 1.000 1 2010 2010
dbSNP: rs1057517139
rs1057517139
1 1.000 0.120 11 17461713 stop gained C/G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057517199
rs1057517199
1 1.000 0.120 11 17461820 stop gained -/T delins 0.700 1.000 1 2006 2006
dbSNP: rs1411638309
rs1411638309
1 1.000 0.120 11 17393125 stop gained G/A;C snv 4.0E-06 0.700 1.000 1 1999 1999
dbSNP: rs765090096
rs765090096
1 1.000 0.120 11 17442814 stop gained G/A;C snv 1.2E-05 3.5E-05 0.700 1.000 1 2016 2016
dbSNP: rs1057516404
rs1057516404
1 1.000 0.120 11 17395230 stop gained C/T snv 0.700 0
dbSNP: rs1057516439
rs1057516439
1 1.000 0.120 11 17404544 stop gained G/C snv 0.700 0
dbSNP: rs139328569
rs139328569
1 1.000 0.120 11 17430839 stop gained G/A snv 1.6E-05 0.700 0
dbSNP: rs1564977373
rs1564977373
2 0.925 0.120 11 17461710 stop gained C/T snv 0.700 0
dbSNP: rs193922402
rs193922402
6 0.807 0.160 11 17395611 stop gained G/A snv 1.3E-05 7.0E-06 0.700 0
dbSNP: rs541269678
rs541269678
2 0.925 0.120 11 17407417 stop gained G/A snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs72559722
rs72559722
6 0.807 0.160 11 17412716 stop gained G/A snv 6.1E-05 2.1E-05 0.700 0
dbSNP: rs768951263
rs768951263
1 1.000 0.120 11 17448563 stop gained -/GAGCTGATTGGTGTCGATGGCAACCAGATTA delins 1.6E-05 7.0E-06 0.700 0
dbSNP: rs201682634
rs201682634
1 1.000 0.120 11 17474956 missense variant G/A snv 8.0E-06 1.4E-05 0.800 1.000 30 1996 2015
dbSNP: rs139964066
rs139964066
2 0.925 0.120 11 17402671 missense variant G/A snv 5.6E-05 3.5E-05 0.800 1.000 29 1996 2016
dbSNP: rs72559716
rs72559716
3 0.882 0.120 11 17395172 missense variant C/T snv 2.2E-05 7.0E-06 0.800 1.000 28 1996 2018
dbSNP: rs28938469
rs28938469
3 0.925 0.160 11 17395659 missense variant G/A snv 0.800 1.000 27 1996 2015
dbSNP: rs200670692
rs200670692
2 0.925 0.120 11 17476715 missense variant A/T snv 5.8E-05 3.5E-05 0.800 1.000 26 1996 2016
dbSNP: rs72559715
rs72559715
5 0.827 0.160 11 17394379 missense variant C/T snv 7.0E-06 0.800 1.000 25 1996 2015
dbSNP: rs72559734
rs72559734
6 0.807 0.160 11 17474955 missense variant C/A;T snv 4.0E-06; 8.0E-06 0.800 1.000 25 1996 2016