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: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 0.667 3 2006 2011
dbSNP: rs1360780
rs1360780
31 0.708 0.320 6 35639794 intron variant T/A;C snv 0.030 1.000 3 2012 2017
dbSNP: rs53576
rs53576
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.030 1.000 3 2015 2019
dbSNP: rs6318
rs6318
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.030 0.667 3 1999 2015
dbSNP: rs63751273
rs63751273
42 0.645 0.280 17 46010389 missense variant C/T snv 0.030 1.000 3 2016 2019
dbSNP: rs104893877
rs104893877
59 0.614 0.360 4 89828149 missense variant C/T snv 0.020 1.000 2 2010 2019
dbSNP: rs6296
rs6296
23 0.732 0.160 6 77462543 synonymous variant C/G snv 0.31 0.27 0.020 1.000 2 2003 2005
dbSNP: rs63750264
rs63750264
APP
17 0.716 0.360 21 25891784 missense variant C/A;G;T snv 0.020 1.000 2 2000 2010
dbSNP: rs63751438
rs63751438
16 0.776 0.120 17 46010388 missense variant C/T snv 0.020 1.000 2 2011 2016
dbSNP: rs746682028
rs746682028
36 0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.020 1.000 2 2010 2015
dbSNP: rs1018381
rs1018381
6 0.882 0.040 6 15656839 intron variant G/A snv 0.16 0.010 1.000 1 2012 2012
dbSNP: rs1044396
rs1044396
17 0.742 0.240 20 63349782 missense variant G/A;C snv 0.47; 6.1E-05 0.010 1.000 1 2012 2012
dbSNP: rs104894127
rs104894127
4 0.925 0.080 9 35685750 missense variant G/C snv 0.010 1.000 1 2017 2017
dbSNP: rs1059004
rs1059004
4 0.925 0.040 21 33028155 3 prime UTR variant C/A snv 0.41 0.010 1.000 1 2013 2013
dbSNP: rs10994336
rs10994336
12 0.776 0.160 10 60420054 intron variant C/T snv 7.5E-02 0.010 1.000 1 2015 2015
dbSNP: rs1126647
rs1126647
8 0.827 0.160 4 73743328 3 prime UTR variant A/T snv 0.31 0.010 1.000 1 2018 2018
dbSNP: rs1133503
rs1133503
4 1.000 0.040 6 95606712 3 prime UTR variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs120074125
rs120074125
7 0.882 0.160 11 6393301 missense variant T/G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs121909671
rs121909671
FUS
6 0.851 0.120 16 31191419 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs121917893
rs121917893
10 0.807 0.160 X 71167508 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs121918805
rs121918805
4 0.925 0.080 2 166002660 missense variant C/A;T snv 2.0E-05 0.010 1.000 1 2007 2007
dbSNP: rs121964849
rs121964849
2 1.000 0.120 12 6869741 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs1224426272
rs1224426272
CIT
6 0.925 0.040 12 119869138 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs12936511
rs12936511
5 0.925 0.080 17 45807036 synonymous variant C/T snv 3.1E-02 3.0E-02 0.010 1.000 1 2009 2009
dbSNP: rs13438494
rs13438494
6 1.000 0.040 7 82759398 intron variant T/G snv 0.61 0.010 1.000 1 2015 2015