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: rs10524523
rs10524523
7 0.807 0.200 19 44899792 intron variant TTTTTTTTTTTTTTTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT delins 0.080 0.875 8 2010 2017
dbSNP: rs75932628
rs75932628
28 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.080 1.000 8 2013 2019
dbSNP: rs6656401
rs6656401
CR1
8 0.776 0.200 1 207518704 intron variant A/G;T snv 0.070 1.000 7 2011 2018
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.040 0.750 4 2011 2017
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.030 1.000 3 2000 2010
dbSNP: rs386747134
rs386747134
3 0.882 0.120 10 103458495 missense variant AGC/GGT mnv 0.030 0.667 3 2009 2010
dbSNP: rs760832624
rs760832624
3 0.882 0.120 10 103458488 frameshift variant CAGCGGCC/- delins 0.030 0.667 3 2009 2010
dbSNP: rs764929617
rs764929617
8 0.776 0.200 19 44907799 missense variant C/T snv 4.0E-06 0.030 0.667 3 2003 2014
dbSNP: rs11754661
rs11754661
6 0.851 0.120 6 150885942 intron variant G/A;T snv 0.020 1.000 2 2010 2012
dbSNP: rs165932
rs165932
2 0.925 0.080 14 73198145 intron variant G/A;T snv 0.61 0.020 1.000 2 2006 2008
dbSNP: rs5882
rs5882
35 0.649 0.400 16 56982180 missense variant G/A;C snv 0.62 0.020 0.500 2 2012 2015
dbSNP: rs597668
rs597668
3 0.925 0.080 19 45205630 intron variant T/A;C;G snv 0.020 0.500 2 2011 2012
dbSNP: rs1012381950
rs1012381950
1 1.000 0.080 8 42353758 intron variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs1035071612
rs1035071612
9 0.763 0.240 19 11113361 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs10845990
rs10845990
2 0.925 0.080 12 7818125 intron variant T/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs11218343
rs11218343
2 0.925 0.080 11 121564878 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs1131445
rs1131445
16 0.724 0.440 15 81309441 3 prime UTR variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs12344615
rs12344615
4 0.851 0.080 9 83666280 intron variant A/C;G snv 0.010 1.000 1 2010 2010
dbSNP: rs12364988
rs12364988
1 1.000 0.080 11 121496917 missense variant T/A;C;G snv 0.49; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs12965520
rs12965520
1 1.000 0.080 18 25107186 intron variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs13306190
rs13306190
7 0.807 0.320 2 21032408 missense variant G/A;C;T snv 1.7E-04; 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1476679
rs1476679
2 0.925 0.080 7 100406823 intron variant C/A;T snv 4.0E-06; 0.74 0.010 1.000 1 2016 2016
dbSNP: rs1501299
rs1501299
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1550117
rs1550117
11 0.790 0.320 2 25343038 upstream gene variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1562990
rs1562990
2 0.925 0.080 11 60255614 intron variant C/A;T snv 0.010 1.000 1 2015 2015