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: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 < 0.001 1 2010 2010
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 0.500 2 2003 2010
dbSNP: rs5569
rs5569
19 0.742 0.280 16 55697923 synonymous variant G/A;C snv 0.31; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs63750072
rs63750072
3 1.000 0.080 17 45983493 missense variant A/G snv 4.0E-02 3.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs41311141
rs41311141
1 22 32484019 synonymous variant A/G;T snv 3.4E-02 0.010 1.000 1 2016 2016
dbSNP: rs2230288
rs2230288
GBA
18 0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 0.700 0
dbSNP: rs55739947
rs55739947
1 15 101010802 missense variant C/A snv 9.3E-03 8.4E-03 0.010 1.000 1 2010 2010
dbSNP: rs71653619
rs71653619
4 1.000 0.040 1 7970934 missense variant G/A snv 7.9E-03 7.0E-03 0.010 1.000 1 2016 2016
dbSNP: rs41549716
rs41549716
4 0.882 0.200 15 89321842 missense variant T/C snv 6.6E-03 7.0E-03 0.010 1.000 1 2007 2007
dbSNP: rs139548132
rs139548132
2 1.000 1 119140608 missense variant A/C;G;T snv 3.2E-03; 1.6E-05; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs76763715
rs76763715
GBA
35 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.020 1.000 2 2013 2016
dbSNP: rs34778348
rs34778348
15 0.742 0.120 12 40363526 missense variant G/A snv 1.7E-03 5.8E-04 0.010 1.000 1 2007 2007
dbSNP: rs143624519
rs143624519
17 0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs421016
rs421016
GBA
30 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.730 1.000 3 2016 2018
dbSNP: rs113994097
rs113994097
22 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 0.010 1.000 1 2008 2008
dbSNP: rs34637584
rs34637584
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.100 0.958 24 2005 2020
dbSNP: rs774005786
rs774005786
8 0.790 0.080 1 7970951 missense variant G/A;T snv 3.9E-04; 2.0E-05 0.010 1.000 1 2008 2008
dbSNP: rs368134308
rs368134308
4 0.882 0.040 6 162443356 missense variant C/A;G;T snv 3.2E-05; 2.6E-04 0.010 1.000 1 2001 2001
dbSNP: rs267604921
rs267604921
3 0.925 0.160 17 45993953 missense variant C/A;G;T snv 6.3E-05; 2.5E-04; 5.3E-06 0.010 1.000 1 2016 2016
dbSNP: rs112176450
rs112176450
7 0.807 0.080 3 184327401 missense variant G/A;T snv 2.1E-04 2.8E-04 0.010 1.000 1 2011 2011
dbSNP: rs80338892
rs80338892
TH
3 1.000 0.040 11 2167905 missense variant C/T snv 1.1E-04 1.4E-04 0.010 1.000 1 2017 2017
dbSNP: rs201106962
rs201106962
5 0.851 0.080 4 89828156 missense variant A/C snv 8.0E-05 7.0E-05 0.010 1.000 1 2013 2013
dbSNP: rs752078407
rs752078407
3 1.000 0.080 20 3910806 missense variant A/T snv 6.4E-05 3.5E-05 0.010 1.000 1 2015 2015
dbSNP: rs774457232
rs774457232
3 0.925 0.080 3 184331303 missense variant G/A;T snv 6.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs111501952
rs111501952
2 1.000 0.040 12 40310461 missense variant G/A snv 4.4E-05 7.7E-05 0.010 1.000 1 2013 2013