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: rs1403543
rs1403543
2 1.000 0.040 X 116170939 intron variant G/A snv 0.48 0.010 1.000 1 2011 2011
dbSNP: rs2106809
rs2106809
8 0.827 0.120 X 15599938 intron variant A/G snv 0.19 0.010 1.000 1 2008 2008
dbSNP: rs3729842
rs3729842
1 1.000 0.040 1 201368042 intron variant A/G snv 0.84 0.010 1.000 1 2012 2012
dbSNP: rs3729843
rs3729843
2 0.925 0.040 1 201367856 intron variant C/A;G;T snv 1.8E-04; 0.42 0.010 1.000 1 2012 2012
dbSNP: rs516514
rs516514
1 1.000 0.040 18 36681085 intron variant C/T snv 0.49 0.710 1.000 1 2013 2013
dbSNP: rs6632677
rs6632677
4 0.851 0.120 X 15596749 intron variant G/C snv 5.0E-03 0.010 1.000 1 2008 2008
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: rs104894368
rs104894368
4 0.882 0.080 12 110919133 stop gained C/A;G;T snv 4.0E-06; 8.0E-06; 2.0E-05 0.710 1.000 11 1996 2016
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: rs111033560
rs111033560
9 0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05 0.710 0.833 6 2003 2013
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: rs397516160
rs397516160
2 0.925 0.080 14 23424804 stop gained G/A;C snv 0.700 1.000 5 1995 2017
dbSNP: rs727504247
rs727504247
5 0.827 0.080 1 201359217 stop gained C/A;T snv 4.1E-06 7.0E-06 0.700 1.000 4 2003 2013
dbSNP: rs730881116
rs730881116
4 0.851 0.080 1 201359216 stop gained C/T snv 0.700 1.000 4 2003 2013
dbSNP: rs200889953
rs200889953
1 1.000 0.040 15 84839087 stop gained C/T snv 0.700 1.000 3 2012 2016
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: rs727503118
rs727503118
2 0.925 0.160 X 120442650 stop gained G/A;T snv 9.8E-05 0.700 1.000 3 2010 2012