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: rs104893877
rs104893877
59 0.614 0.360 4 89828149 missense variant C/T snv 0.100 0.980 153 1997 2020
dbSNP: rs104893878
rs104893878
21 0.732 0.160 4 89835580 missense variant C/G snv 0.100 0.957 70 1998 2019
dbSNP: rs188286943
rs188286943
9 0.776 0.160 16 46662452 missense variant C/T snv 0.100 0.957 23 2012 2019
dbSNP: rs1289324472
rs1289324472
GBA
21 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.100 0.950 20 2004 2019
dbSNP: rs356219
rs356219
9 0.776 0.240 4 89716450 intron variant G/A snv 0.54 0.900 1.000 19 2008 2019
dbSNP: rs11931074
rs11931074
7 0.851 0.080 4 89718364 intron variant G/A;C;T snv 0.900 1.000 16 2009 2020
dbSNP: rs11724635
rs11724635
3 0.925 0.080 4 15735478 intron variant C/A;G snv 0.43 0.880 0.846 13 2011 2019
dbSNP: rs28938172
rs28938172
7 0.790 0.080 1 7984981 missense variant T/C snv 0.100 1.000 13 2003 2017
dbSNP: rs2736990
rs2736990
4 0.882 0.080 4 89757390 intron variant G/A;T snv 0.860 1.000 12 2009 2018
dbSNP: rs6812193
rs6812193
3 0.882 0.080 4 76277833 intron variant C/T snv 0.38 0.880 0.667 12 2009 2017
dbSNP: rs12456492
rs12456492
3 0.882 0.080 18 43093415 intron variant A/G snv 0.33 0.890 0.909 11 2012 2020
dbSNP: rs3129882
rs3129882
6 0.807 0.240 6 32441753 intron variant G/A snv 0.56 0.900 0.818 11 2010 2015
dbSNP: rs356220
rs356220
3 0.925 0.080 4 89720189 intron variant T/A;C snv 0.850 1.000 11 2010 2016
dbSNP: rs3758549
rs3758549
3 0.882 0.040 10 102244438 upstream gene variant G/A snv 0.14 0.100 0.818 11 2009 2014
dbSNP: rs356165
rs356165
3 0.882 0.080 4 89725735 3 prime UTR variant G/A snv 0.54 0.780 0.900 10 2007 2015
dbSNP: rs1481318368
rs1481318368
TH
10 0.827 0.120 11 2169802 missense variant C/T snv 0.090 1.000 9 2013 2020
dbSNP: rs1564282
rs1564282
GAK
3 1.000 0.040 4 858525 intron variant C/T snv 8.1E-02 0.870 0.889 9 2009 2015
dbSNP: rs531523381
rs531523381
1 1.000 0.040 10 86958785 missense variant G/C snv 0.080 1.000 8 1999 2018
dbSNP: rs9652490
rs9652490
4 0.851 0.080 15 77671545 intron variant A/G snv 0.28 0.080 0.625 8 2010 2015
dbSNP: rs12817488
rs12817488
3 1.000 0.040 12 122811747 intron variant G/A snv 0.39 0.850 0.857 7 2011 2016
dbSNP: rs34995376
rs34995376
7 0.807 0.080 12 40310435 missense variant G/A snv 7.0E-06 0.070 1.000 7 2005 2017
dbSNP: rs356182
rs356182
3 0.882 0.080 4 89704960 intron variant G/A snv 0.65 0.740 1.000 7 2014 2018
dbSNP: rs431905511
rs431905511
9 0.827 0.080 4 89828154 missense variant C/T snv 0.070 1.000 7 2013 2020
dbSNP: rs4698412
rs4698412
1 1.000 0.040 4 15735725 intron variant G/A;T snv 0.850 1.000 7 2011 2019
dbSNP: rs74315355
rs74315355
7 0.790 0.080 1 20644639 missense variant G/A snv 0.070 0.857 7 2005 2015