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: rs121912438
rs121912438
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.030 1.000 3 2007 2019
dbSNP: rs1001179
rs1001179
CAT
33 0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16 0.010 1.000 1 2015 2015
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1170251457
rs1170251457
XPA
1 9 97675556 stop gained C/T snv 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs118192200
rs118192200
4 0.882 20 63444729 missense variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2016 2016
dbSNP: rs1290094897
rs1290094897
2 1.000 0.040 1 7962815 synonymous variant G/T snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs13312995
rs13312995
1 6 135429886 missense variant G/A snv 2.0E-02 2.0E-02 0.010 1.000 1 2007 2007
dbSNP: rs1341026713
rs1341026713
APP
3 0.925 0.080 21 25955719 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs137852642
rs137852642
9 0.827 0.200 19 15192242 missense variant G/A;T snv 4.5E-06; 4.5E-06 0.010 1.000 1 2005 2005
dbSNP: rs137853054
rs137853054
4 0.882 0.160 6 161973317 missense variant G/A;C;T snv 3.7E-04; 4.0E-06; 8.0E-06 0.010 < 0.001 1 2006 2006
dbSNP: rs1396086494
rs1396086494
APP
6 0.851 0.080 21 26051069 missense variant G/A snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1475170339
rs1475170339
18 0.732 0.240 16 1792325 missense variant T/C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs1801582
rs1801582
3 0.925 0.120 6 161386823 missense variant C/G;T snv 0.16; 3.2E-05 0.010 1.000 1 2020 2020
dbSNP: rs367543041
rs367543041
15 0.742 0.200 1 11022553 missense variant G/A;C snv 3.0E-05 0.010 1.000 1 2012 2012
dbSNP: rs3745274
rs3745274
30 0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27 0.010 1.000 1 2004 2004
dbSNP: rs377001714
rs377001714
2 1.000 0.040 X 78118074 missense variant C/T snv 1.1E-05 9.5E-06 0.010 1.000 1 2019 2019
dbSNP: rs421016
rs421016
GBA
30 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.010 1.000 1 2018 2018
dbSNP: rs515299
rs515299
CFH
4 0.925 0.080 1 196737547 missense variant G/A;C;T snv 4.8E-05; 1.7E-02 0.010 1.000 1 2005 2005
dbSNP: rs571825723
rs571825723
4 0.925 0.080 14 73211867 missense variant C/T snv 4.4E-05 2.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs63749806
rs63749806
7 0.827 0.080 14 73186902 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs63751287
rs63751287
13 0.742 0.120 14 73192792 missense variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs748860341
rs748860341
2 1.000 0.120 17 44910143 missense variant C/G;T snv 8.0E-06; 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs751037529
rs751037529
3 0.925 0.040 6 161785793 missense variant C/G snv 1.2E-05 0.010 < 0.001 1 2016 2016
dbSNP: rs76151636
rs76151636
10 0.776 0.280 13 51944145 missense variant G/A;T snv 4.0E-06; 9.2E-04 0.010 1.000 1 2001 2001