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: rs11136000
rs11136000
CLU
19 0.752 0.160 8 27607002 intron variant T/C snv 0.56 0.100 1.000 12 2010 2018
dbSNP: rs3851179
rs3851179
15 0.752 0.280 11 86157598 downstream gene variant T/C snv 0.70 0.090 1.000 9 2010 2017
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: 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: rs3865444
rs3865444
8 0.851 0.160 19 51224706 upstream gene variant C/A snv 0.25 0.040 1.000 4 2015 2019
dbSNP: rs610932
rs610932
5 0.851 0.080 11 60171834 downstream gene variant T/G snv 0.57 0.040 1.000 4 2015 2018
dbSNP: rs3764650
rs3764650
9 0.790 0.200 19 1046521 intron variant T/G snv 0.14 0.030 1.000 3 2015 2020
dbSNP: rs3818361
rs3818361
CR1
6 0.851 0.080 1 207611623 intron variant A/G snv 0.74 0.030 1.000 3 2010 2014
dbSNP: rs386747134
rs386747134
3 0.882 0.120 10 103458495 missense variant AGC/GGT mnv 0.030 0.667 3 2009 2010
dbSNP: rs4877365
rs4877365
4 0.851 0.120 9 87540777 intron variant G/A snv 0.28 0.030 1.000 3 2006 2012
dbSNP: rs4878104
rs4878104
4 0.851 0.120 9 87578076 intron variant C/T snv 0.40 0.030 1.000 3 2006 2012
dbSNP: rs5984894
rs5984894
2 0.925 0.080 X 92138738 intron variant A/G snv 0.54 0.030 1.000 3 2009 2010
dbSNP: rs744373
rs744373
8 0.851 0.160 2 127137039 downstream gene variant A/G snv 0.35 0.030 1.000 3 2011 2018
dbSNP: rs760832624
rs760832624
3 0.882 0.120 10 103458488 frameshift variant CAGCGGCC/- delins 0.030 0.667 3 2009 2010
dbSNP: rs10997477
rs10997477
1 1.000 0.080 10 67000961 intron variant C/T snv 0.31 0.020 1.000 2 2012 2014
dbSNP: rs11622883
rs11622883
1 1.000 0.080 14 94689439 regulatory region variant T/A snv 0.37 0.020 1.000 2 2011 2017
dbSNP: rs11754661
rs11754661
6 0.851 0.120 6 150885942 intron variant G/A;T snv 0.020 1.000 2 2010 2012
dbSNP: rs16923760
rs16923760
1 1.000 0.080 10 66920370 intron variant T/C snv 0.12 0.020 1.000 2 2012 2014
dbSNP: rs17070145
rs17070145
10 0.790 0.120 5 168418786 intron variant C/T snv 0.43 0.020 0.500 2 2011 2017
dbSNP: rs1784933
rs1784933
3 0.882 0.080 11 121618707 intron variant G/A snv 0.84 0.020 1.000 2 2015 2017
dbSNP: rs1925608
rs1925608
1 1.000 0.080 10 66990654 intron variant A/C snv 0.49 0.020 0.500 2 2012 2014
dbSNP: rs1925609
rs1925609
1 1.000 0.080 10 66995149 intron variant T/C snv 0.51 0.020 1.000 2 2012 2014
dbSNP: rs498055
rs498055
2 0.925 0.080 10 95595157 non coding transcript exon variant C/A;G;T snv 0.39 0.020 0.500 2 2006 2008
dbSNP: rs597668
rs597668
3 0.925 0.080 19 45205630 intron variant T/A;C;G snv 0.020 0.500 2 2011 2012