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: rs36212066
rs36212066
3 0.882 0.080 11 47332275 intron variant AGGGAAGCCATCCAGGCTGAGAGGG/- delins 4.0E-03 8.9E-04 0.700 1.000 8 2003 2015
dbSNP: rs397516083
rs397516083
4 0.851 0.080 11 47346379 intron variant C/T snv 2.1E-05 0.700 1.000 5 2010 2016
dbSNP: rs397515893
rs397515893
2 0.925 0.080 11 47343158 intron variant C/T snv 1.3E-05; 4.2E-06 7.0E-06 0.700 1.000 4 2002 2017
dbSNP: rs201078659
rs201078659
2 0.925 0.080 11 47346380 intron variant G/A;C;T snv 3.3E-05 0.700 1.000 2 2014 2017
dbSNP: rs121909374
rs121909374
7 0.790 0.120 11 47342578 stop gained C/A;G snv 1.3E-05 0.700 1.000 16 1997 2017
dbSNP: rs387907267
rs387907267
4 0.851 0.120 11 47335120 stop gained G/A snv 1.2E-05 2.8E-05 0.700 1.000 10 2003 2015
dbSNP: rs397516005
rs397516005
5 0.827 0.120 11 47333566 stop gained G/A snv 8.4E-06 2.8E-05 0.760 1.000 6 2002 2019
dbSNP: rs121909377
rs121909377
3 0.882 0.080 11 47333238 stop gained C/A;T snv 4.8E-06; 1.9E-05 0.700 1.000 5 1999 2017
dbSNP: rs397516037
rs397516037
4 0.851 0.120 11 47332189 stop gained G/A snv 8.0E-06 0.700 1.000 5 2001 2008
dbSNP: rs397515982
rs397515982
2 0.925 0.080 11 47335944 stop gained C/T snv 0.700 1.000 3 2004 2014
dbSNP: rs397515992
rs397515992
3 0.882 0.080 11 47335042 stop gained G/A snv 0.700 1.000 3 1998 2010
dbSNP: rs397516042
rs397516042
5 0.827 0.120 11 47332075 stop gained G/A snv 8.1E-06 7.0E-06 0.700 1.000 3 2008 2013
dbSNP: rs730880597
rs730880597
1 1.000 0.040 11 47332245 stop gained C/T snv 0.700 1.000 3 2012 2014
dbSNP: rs193922386
rs193922386
3 0.882 0.080 11 47346365 stop gained G/A;C;T snv 4.9E-06 0.700 1.000 2 2008 2011
dbSNP: rs397515895
rs397515895
1 1.000 0.040 11 47343099 stop gained G/A snv 0.700 1.000 2 2002 2008
dbSNP: rs397515954
rs397515954
1 1.000 0.040 11 47338646 stop gained C/A snv 0.700 1.000 2 2014 2017
dbSNP: rs397515965
rs397515965
2 0.925 0.080 11 47337539 stop gained C/A;T snv 0.700 1.000 2 2013 2014
dbSNP: rs397516061
rs397516061
1 1.000 0.040 11 47349815 stop gained G/A snv 0.700 1.000 2 2015 2018
dbSNP: rs573916965
rs573916965
5 0.827 0.080 11 47346297 stop gained C/A;T snv 2.5E-04 0.720 1.000 2 2008 2010
dbSNP: rs730880698
rs730880698
1 1.000 0.040 11 47351294 stop gained G/A;C;T snv 5.3E-05 0.700 1.000 2 2007 2011
dbSNP: rs1555120651
rs1555120651
1 1.000 0.040 11 47333966 stop gained G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs367947846
rs367947846
2 1.000 0.040 11 47346298 stop gained G/A;C snv 7.7E-05 0.700 1.000 1 2013 2013
dbSNP: rs373792537
rs373792537
1 1.000 0.040 11 47337467 stop gained G/A;C;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs397515910
rs397515910
2 0.925 0.080 11 47342627 stop gained A/C;T snv 0.700 1.000 1 2011 2011
dbSNP: rs397515920
rs397515920
1 1.000 0.040 11 47342088 stop gained T/A snv 0.700 1.000 1 2003 2003