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: rs33939927
rs33939927
24 0.708 0.120 12 40310434 missense variant C/A;G;T snv 4.0E-06; 1.2E-05 0.100 1.000 46 2005 2019
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 0.100 0.931 29 2008 2019
dbSNP: rs104893875
rs104893875
13 0.742 0.120 4 89828170 missense variant C/T snv 4.0E-06 0.100 1.000 28 2005 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 0.821 28 2002 2019
dbSNP: rs421016
rs421016
GBA
30 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.100 0.962 26 2009 2020
dbSNP: rs188286943
rs188286943
9 0.776 0.160 16 46662452 missense variant C/T snv 0.100 0.957 23 2012 2019
dbSNP: rs76763715
rs76763715
GBA
35 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.100 0.955 22 2004 2020
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: 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: rs121917767
rs121917767
6 0.827 0.120 4 41260751 missense variant C/A;G;T snv 4.0E-05; 4.0E-06; 2.0E-05 0.100 1.000 11 1999 2017
dbSNP: rs356220
rs356220
3 0.925 0.080 4 89720189 intron variant T/A;C snv 0.850 1.000 11 2010 2016
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: 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: 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: 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
dbSNP: rs2281983
rs2281983
4 0.851 0.080 10 102231624 missense variant G/A;C;T snv 0.62; 8.3E-06 0.060 0.833 6 2011 2017