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: rs1006737
rs1006737
27 0.695 0.120 12 2236129 intron variant G/A snv 0.36 0.010 < 0.001 1 2016 2016
dbSNP: rs1018381
rs1018381
6 0.882 0.040 6 15656839 intron variant G/A snv 0.16 0.010 1.000 1 2009 2009
dbSNP: rs10447760
rs10447760
4 0.851 0.040 7 114083210 upstream gene variant C/T snv 0.17 0.010 < 0.001 1 2019 2019
dbSNP: rs1049564
rs1049564
PNP
6 0.882 0.160 14 20472447 missense variant G/A snv 0.19 0.21 0.010 1.000 1 2007 2007
dbSNP: rs1051266
rs1051266
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2014 2014
dbSNP: rs10521467
rs10521467
2 0.925 0.080 9 76036575 intron variant A/G snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.010 1.000 1 2011 2011
dbSNP: rs10748842
rs10748842
8 0.807 0.120 10 81889983 intron variant T/C snv 0.13 0.010 1.000 1 2020 2020
dbSNP: rs11030108
rs11030108
3 1.000 0.040 11 27673917 intron variant A/G snv 0.72 0.010 1.000 1 2013 2013
dbSNP: rs1108580
rs1108580
DBH
9 0.790 0.240 9 133639992 splice region variant A/G snv 0.45 0.54 0.010 1.000 1 2018 2018
dbSNP: rs112422930
rs112422930
4 0.882 0.160 1 45332409 missense variant A/C snv 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1126680
rs1126680
5 0.851 0.160 3 165837337 synonymous variant C/T snv 5.6E-02 5.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs1143684
rs1143684
4 0.882 0.160 6 3010156 missense variant C/T snv 0.79 0.84 0.010 1.000 1 2010 2010
dbSNP: rs11564148
rs11564148
4 0.851 0.080 12 40320099 missense variant T/A snv 0.30 0.27 0.010 < 0.001 1 2015 2015
dbSNP: rs1157659
rs1157659
2 1.000 0.040 11 27736075 intron variant A/G snv 0.37 0.010 1.000 1 2013 2013
dbSNP: rs115881343
rs115881343
2 1.000 0.040 19 44899959 intron variant C/G;T snv 2.9E-02 0.010 1.000 1 2014 2014
dbSNP: rs117129097
rs117129097
1 1.000 0.040 12 128054737 intron variant C/G;T snv 1.9E-03 0.010 1.000 1 2019 2019
dbSNP: rs11868035
rs11868035
14 0.763 0.200 17 17811787 splice region variant G/A snv 0.45 0.33 0.010 1.000 1 2018 2018
dbSNP: rs1187120
rs1187120
3 0.925 0.040 6 34182850 intergenic variant T/C snv 0.99 0.010 1.000 1 2015 2015
dbSNP: rs11887120
rs11887120
4 0.882 0.080 2 25262866 intron variant C/T snv 0.45 0.010 < 0.001 1 2016 2016
dbSNP: rs1206642175
rs1206642175
3 0.925 0.080 6 151808263 synonymous variant G/A snv 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs121434610
rs121434610
SMS
3 0.882 0.120 X 21967312 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs1216578110
rs1216578110
APP
1 1.000 0.040 21 25955652 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs121909668
rs121909668
FUS
8 0.790 0.120 16 31191418 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs121909731
rs121909731
7 0.851 0.120 10 87057692 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2016 2016