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: rs11343
rs11343
1 1.000 0.040 16 19268142 3 prime UTR variant T/C;G snv 0.710 1.000 3 2016 2019
dbSNP: rs546433642
rs546433642
4 0.925 0.120 17 46172742 intron variant T/C;G snv 0.700 1.000 3 2009 2012
dbSNP: rs1060501198
rs1060501198
3 0.925 0.040 17 7674900 missense variant T/C;G snv 0.020 1.000 2 2006 2010
dbSNP: rs7033345
rs7033345
3 0.882 0.080 9 28717575 intergenic variant T/C;G snv 0.35 0.020 1.000 2 2011 2015
dbSNP: rs10963676
rs10963676
1 1.000 0.040 9 18622045 intron variant T/C;G snv 0.700 1.000 1 2006 2006
dbSNP: rs1229984
rs1229984
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.010 < 0.001 1 2016 2016
dbSNP: rs12778366
rs12778366
13 0.724 0.480 10 67883321 upstream gene variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs1800955
rs1800955
8 0.827 0.160 11 636784 upstream gene variant T/C;G snv 0.010 < 0.001 1 2011 2011
dbSNP: rs182893847
rs182893847
1 1.000 0.040 6 161350125 missense variant T/C;G snv 8.0E-06; 2.9E-04 0.010 1.000 1 2018 2018
dbSNP: rs199498
rs199498
2 0.925 0.120 17 46788237 intron variant T/C;G snv 0.800 1.000 1 2014 2014
dbSNP: rs2301364
rs2301364
1 1.000 0.040 9 137140083 intron variant T/C;G snv 0.010 1.000 1 2010 2010
dbSNP: rs3212366
rs3212366
1 1.000 0.040 16 89919844 missense variant T/C;G snv 2.4E-03; 8.2E-06 0.010 1.000 1 2016 2016
dbSNP: rs4073221
rs4073221
1 1.000 0.040 3 18235996 intron variant T/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs6721961
rs6721961
24 0.672 0.520 2 177265309 intron variant T/C;G snv 0.89 0.010 1.000 1 2018 2018
dbSNP: rs7118648
rs7118648
1 1.000 0.040 11 96375264 intron variant T/C;G snv 7.5E-02 0.800 1.000 1 2013 2013
dbSNP: rs906807
rs906807
1 1.000 0.040 18 9117869 missense variant T/C;G snv 0.80; 4.0E-06 0.010 1.000 1 1998 1998
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: rs28938172
rs28938172
7 0.790 0.080 1 7984981 missense variant T/C snv 0.100 1.000 13 2003 2017
dbSNP: rs34311866
rs34311866
6 0.882 0.080 4 958159 missense variant T/C snv 0.18 0.14 0.730 1.000 6 2014 2020
dbSNP: rs11931532
rs11931532
1 1.000 0.040 4 15724143 intron variant T/C snv 0.13 0.730 0.500 4 2012 2019
dbSNP: rs1317187144
rs1317187144
GBA
4 0.851 0.120 1 155239889 missense variant T/C snv 4.0E-06 0.040 1.000 4 2014 2018
dbSNP: rs1611115
rs1611115
DBH
16 0.732 0.280 9 133635393 upstream gene variant T/C snv 0.80 0.040 0.500 4 2010 2019
dbSNP: rs2737029
rs2737029
1 1.000 0.040 4 89790619 intron variant T/C snv 0.45 0.720 1.000 4 2008 2018
dbSNP: rs35870237
rs35870237
9 0.763 0.120 12 40340404 missense variant T/C snv 0.040 1.000 4 2006 2014
dbSNP: rs7215239
rs7215239
3 1.000 0.040 17 45690407 intron variant T/C snv 0.30 0.700 1.000 4 2011 2014