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: rs1800553
rs1800553
17 0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03 0.010 1.000 1 2019 2019
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2016 2016
dbSNP: rs2734705
rs2734705
2 0.925 0.120 1 86486641 missense variant A/G snv 0.86 0.87 0.010 1.000 1 2010 2010
dbSNP: rs4077468
rs4077468
2 0.925 0.200 1 205945629 upstream gene variant A/G snv 0.36 0.700 1.000 1 2013 2013
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 2014 2014
dbSNP: rs5744168
rs5744168
18 0.701 0.480 1 223111858 stop gained G/A snv 5.3E-02 4.4E-02 0.010 1.000 1 2010 2010
dbSNP: rs61750120
rs61750120
4 0.882 0.160 1 94042767 missense variant G/A snv 1.2E-04 1.8E-04 0.010 1.000 1 2015 2015
dbSNP: rs61751374
rs61751374
10 0.776 0.160 1 94043413 missense variant G/A snv 1.7E-03 1.7E-03 0.010 1.000 1 2019 2019
dbSNP: rs7512462
rs7512462
4 0.882 0.200 1 205930467 intron variant T/C snv 0.38 0.010 1.000 1 2014 2014
dbSNP: rs768623239
rs768623239
26 0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05 0.010 1.000 1 2014 2014
dbSNP: rs779426136
rs779426136
2 0.925 0.120 1 94041346 missense variant G/A;T snv 1.2E-05; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs871799
rs871799
1 1.000 0.120 1 203200743 intergenic variant C/G snv 0.18 0.010 1.000 1 2011 2011
dbSNP: rs880633
rs880633
2 0.925 0.160 1 203183673 missense variant T/C snv 0.45 0.41 0.010 1.000 1 2011 2011
dbSNP: rs1143634
rs1143634
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2009 2009
dbSNP: rs1143639
rs1143639
2 1.000 0.120 2 112831216 non coding transcript exon variant C/T snv 0.20 0.010 1.000 1 2009 2009
dbSNP: rs2077079
rs2077079
2 0.925 0.120 2 85668215 missense variant T/G snv 0.41 0.39 0.010 1.000 1 2018 2018
dbSNP: rs3024798
rs3024798
1 1.000 0.120 2 85667185 splice region variant G/A;T snv 0.36 0.010 1.000 1 2018 2018
dbSNP: rs7316
rs7316
3 0.882 0.160 2 85658890 3 prime UTR variant T/C snv 0.14 0.010 1.000 1 2018 2018
dbSNP: rs2688482
rs2688482
1 1.000 0.120 3 195802247 intron variant T/C snv 0.66 0.700 1.000 1 2015 2015
dbSNP: rs3103933
rs3103933
1 1.000 0.120 3 195758569 intron variant A/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs2227307
rs2227307
6 0.851 0.240 4 73740952 intron variant T/G snv 0.45 0.020 1.000 2 2016 2017
dbSNP: rs2227306
rs2227306
21 0.677 0.680 4 73741338 intron variant C/T snv 0.31 0.010 1.000 1 2016 2016
dbSNP: rs2231142
rs2231142
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2013 2013
dbSNP: rs4073
rs4073
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.010 1.000 1 2016 2016
dbSNP: rs5743618
rs5743618
25 0.677 0.360 4 38797027 missense variant C/A snv 0.53 0.51 0.010 1.000 1 2013 2013