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: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2004 2004
dbSNP: rs662
rs662
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2010 2010
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2010 2010
dbSNP: rs34637584
rs34637584
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.010 1.000 1 2006 2006
dbSNP: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.060 0.500 6 2006 2016
dbSNP: rs75932628
rs75932628
28 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.010 1.000 1 2015 2015
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 2013 2013
dbSNP: rs11558538
rs11558538
19 0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02 0.020 1.000 2 2008 2010
dbSNP: rs2071746
rs2071746
18 0.708 0.320 22 35380679 intron variant A/T snv 0.49 0.020 1.000 2 2015 2017
dbSNP: rs34778348
rs34778348
15 0.742 0.120 12 40363526 missense variant G/A snv 1.7E-03 5.8E-04 0.010 < 0.001 1 2008 2008
dbSNP: rs1143633
rs1143633
11 0.752 0.280 2 112832890 intron variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs35870237
rs35870237
9 0.763 0.120 12 40340404 missense variant T/C snv 0.010 1.000 1 2006 2006
dbSNP: rs33949390
rs33949390
9 0.776 0.160 12 40320043 missense variant G/A;C;T snv 1.6E-04; 1.9E-03; 8.0E-06 0.020 0.500 2 2015 2018
dbSNP: rs7133914
rs7133914
7 0.790 0.120 12 40309109 missense variant G/A;T snv 8.5E-02; 1.6E-05 0.010 1.000 1 2018 2018
dbSNP: rs7308720
rs7308720
7 0.790 0.120 12 40263898 missense variant C/A;G snv 4.0E-06; 8.7E-02 0.010 1.000 1 2018 2018
dbSNP: rs72470545
rs72470545
6 0.807 0.280 2 74532698 missense variant G/A snv 4.0E-03 2.5E-03 0.020 1.000 2 2014 2017
dbSNP: rs11856808
rs11856808
5 0.827 0.120 15 77680428 intron variant C/T snv 0.42 0.030 0.667 3 2010 2012
dbSNP: rs1052553
rs1052553
8 0.827 0.200 17 45996523 synonymous variant A/G snv 0.14 0.15 0.020 0.500 2 2014 2016
dbSNP: rs16976358
rs16976358
6 0.827 0.080 18 42611606 intron variant T/C snv 1.0E-02 0.010 1.000 1 2017 2017
dbSNP: rs1800435
rs1800435
7 0.827 0.200 9 113391611 missense variant C/G snv 8.3E-02 6.1E-02 0.010 < 0.001 1 2017 2017
dbSNP: rs387907571
rs387907571
6 0.827 0.080 3 132477995 missense variant A/G snv 4.2E-06 3.5E-05 0.710 1.000 1 2015 2015
dbSNP: rs9652490
rs9652490
4 0.851 0.080 15 77671545 intron variant A/G snv 0.28 0.900 0.714 14 2009 2016
dbSNP: rs3794087
rs3794087
6 0.851 0.120 11 35308068 intron variant G/T snv 0.20 0.900 0.500 10 2012 2018
dbSNP: rs2071747
rs2071747
4 0.851 0.120 22 35381192 missense variant G/C snv 4.3E-02 4.1E-02 0.010 1.000 1 2017 2017