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: rs4925
rs4925
28 0.677 0.560 10 104263031 missense variant C/A snv 0.25 0.23 0.010 1.000 1 2018 2018
dbSNP: rs156697
rs156697
25 0.672 0.560 10 104279427 missense variant A/G;T snv 0.35 0.010 1.000 1 2018 2018
dbSNP: rs646776
rs646776
25 0.752 0.240 1 109275908 downstream gene variant C/T snv 0.74 0.010 1.000 1 2013 2013
dbSNP: rs80356740
rs80356740
2 1.000 1 11022556 missense variant A/G snv 1.7E-05 0.010 1.000 1 2008 2008
dbSNP: rs104894201
rs104894201
12 0.763 0.280 11 111908934 missense variant T/C snv 0.010 1.000 1 2011 2011
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2004 2016
dbSNP: rs771845093
rs771845093
3 0.925 0.160 1 12005903 missense variant G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs121909715
rs121909715
GSN
8 0.790 0.160 9 121310819 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs3173615
rs3173615
12 0.807 0.200 7 12229791 missense variant C/A;G snv 0.49 0.010 1.000 1 2018 2018
dbSNP: rs1990622
rs1990622
16 0.742 0.200 7 12244161 downstream gene variant A/G snv 0.52 0.010 1.000 1 2014 2014
dbSNP: rs104893768
rs104893768
RHO
11 0.807 0.080 3 129528801 missense variant C/A snv 0.020 1.000 2 2002 2014
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2017 2017
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 2017 2017
dbSNP: rs371557337
rs371557337
2 1.000 0.040 5 150733475 start lost T/C;G snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs75548401
rs75548401
GBA
6 0.882 0.160 1 155236246 missense variant G/A snv 5.9E-03 6.2E-03 0.010 1.000 1 2018 2018
dbSNP: rs200161705
rs200161705
5 0.882 0.160 4 169585374 missense variant C/A;T snv 6.0E-05; 2.3E-03 0.010 1.000 1 2019 2019
dbSNP: rs755135182
rs755135182
2 2 177231657 missense variant G/A snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs587778556
rs587778556
2 2 177231705 missense variant G/A snv 3.2E-05 4.9E-05 0.010 1.000 1 2014 2014
dbSNP: rs1360444859
rs1360444859
2 1.000 0.080 16 1791721 missense variant T/C snv 1.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs1424266770
rs1424266770
10 0.790 0.200 4 184632307 missense variant C/G snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs66468541
rs66468541
4 0.925 0.080 2 197497275 missense variant C/T snv 0.010 1.000 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: rs143061887
rs143061887
3 0.925 0.080 1 226881960 missense variant C/T snv 1.6E-05 5.6E-05 0.010 1.000 1 2016 2016
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.100 1.000 10 2006 2018
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 1.000 2 2006 2011