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: 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: rs2230288
rs2230288
GBA
18 0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 0.790 1.000 10 2012 2019
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: rs746682028
rs746682028
36 0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.100 0.700 10 2004 2019
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: rs201106962
rs201106962
5 0.851 0.080 4 89828156 missense variant A/C snv 8.0E-05 7.0E-05 0.090 1.000 9 2013 2019
dbSNP: rs112176450
rs112176450
7 0.807 0.080 3 184327401 missense variant G/A;T snv 2.1E-04 2.8E-04 0.080 0.875 8 2013 2015
dbSNP: rs531523381
rs531523381
1 1.000 0.040 10 86958785 missense variant G/C snv 0.080 1.000 8 1999 2018
dbSNP: rs7133914
rs7133914
7 0.790 0.120 12 40309109 missense variant G/A;T snv 8.5E-02; 1.6E-05 0.080 1.000 8 2014 2019
dbSNP: rs75932628
rs75932628
28 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.080 0.875 8 2013 2016
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: rs11558538
rs11558538
19 0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02 0.070 0.857 7 2008 2017
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: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.070 0.571 7 2002 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
dbSNP: rs823156
rs823156
1 1.000 0.040 1 205795512 non coding transcript exon variant G/A snv 0.77 0.70 0.850 1.000 7 2011 2019
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.060 0.500 6 2004 2016
dbSNP: rs11158026
rs11158026
1 1.000 0.040 14 54882151 intron variant C/A;G;T snv 0.730 1.000 6 2014 2018