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: 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: rs1481950
rs1481950
2 1.000 0.080 8 53777725 intron variant C/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs766001707
rs766001707
6 0.851 0.200 14 92096772 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.040 1.000 4 2013 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.040 1.000 4 2013 2019
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: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2017 2017
dbSNP: rs587777606
rs587777606
6 0.851 0.160 11 62691300 stop gained G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs755221106
rs755221106
7 0.851 0.040 17 50617560 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2019 2019
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: 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: rs104894201
rs104894201
12 0.763 0.280 11 111908934 missense variant T/C snv 0.010 1.000 1 2011 2011
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: rs387907043
rs387907043
3 0.925 0.120 20 63930873 missense variant T/A;G snv 4.0E-06 0.020 1.000 2 2012 2015
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: rs63751177
rs63751177
GRN
2 1.000 0.120 17 44351438 stop gained G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs63751294
rs63751294
GRN
6 0.827 0.120 17 44352404 stop gained C/T snv 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs5848
rs5848
17 0.708 0.120 17 44352876 3 prime UTR variant C/T snv 0.41 0.010 1.000 1 2015 2015
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: 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: 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
dbSNP: rs66468541
rs66468541
4 0.925 0.080 2 197497275 missense variant C/T snv 0.010 1.000 1 2019 2019
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