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 0.070 0.857 7 2001 2019
dbSNP: rs4606
rs4606
16 0.752 0.120 1 192812042 3 prime UTR variant C/G;T snv 0.030 1.000 3 2007 2010
dbSNP: rs63751273
rs63751273
42 0.645 0.280 17 46010389 missense variant C/T snv 0.030 1.000 3 2002 2017
dbSNP: rs104893878
rs104893878
21 0.732 0.160 4 89835580 missense variant C/G snv 0.020 1.000 2 2001 2019
dbSNP: rs113994099
rs113994099
10 0.827 0.240 15 89320883 missense variant T/C snv 0.020 1.000 2 2007 2013
dbSNP: rs1289324472
rs1289324472
GBA
21 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.020 1.000 2 2013 2016
dbSNP: rs63751165
rs63751165
3 0.925 0.120 17 46010401 missense variant G/A;T snv 0.020 1.000 2 2004 2005
dbSNP: rs63751438
rs63751438
16 0.776 0.120 17 46010388 missense variant C/T snv 0.020 1.000 2 2003 2007
dbSNP: rs886039227
rs886039227
4 0.925 0.200 2 74378123 missense variant A/C snv 0.020 1.000 2 2014 2018
dbSNP: rs1224426272
rs1224426272
CIT
6 0.925 0.040 12 119869138 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1239756674
rs1239756674
2 1.000 0.040 X 43743818 synonymous variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs12817488
rs12817488
3 1.000 0.040 12 122811747 intron variant G/A snv 0.39 0.010 1.000 1 2014 2014
dbSNP: rs137852538
rs137852538
3 0.925 0.080 X 78117385 missense variant A/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1426868527
rs1426868527
3 1 20633841 missense variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1555727942
rs1555727942
3 0.925 0.160 19 15180807 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs188286943
rs188286943
9 0.776 0.160 16 46662452 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs2421947
rs2421947
2 1.000 0.040 1 171863954 intron variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs242557
rs242557
12 0.752 0.200 17 45942346 intron variant G/A snv 0.36 0.010 1.000 1 2011 2011
dbSNP: rs2942168
rs2942168
4 0.925 0.120 17 45637484 non coding transcript exon variant G/A;C;T snv 0.14 0.010 1.000 1 2014 2014
dbSNP: rs3135500
rs3135500
5 0.851 0.160 16 50732975 3 prime UTR variant G/A snv 0.44 0.010 1.000 1 2018 2018
dbSNP: rs34995376
rs34995376
7 0.807 0.080 12 40310435 missense variant G/A snv 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs35801418
rs35801418
7 0.827 0.120 12 40321114 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs45467995
rs45467995
1 1 20649062 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs63750050
rs63750050
5 0.925 0.080 14 73198106 missense variant T/G snv 0.010 1.000 1 2010 2010
dbSNP: rs63750416
rs63750416
7 0.851 0.120 17 46010373 missense variant A/C snv 0.010 1.000 1 2001 2001