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: rs369634041
rs369634041
3 6 162262647 missense variant C/A;T snv 4.0E-06; 2.0E-05 0.010 1.000 1 2016 2016
dbSNP: rs74315414
rs74315414
5 0.882 0.200 20 4699533 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs762999184
rs762999184
2 1.000 0.080 22 32478989 missense variant C/A;T snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs772784579
rs772784579
GRN
2 1.000 0.040 17 44352387 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs104893878
rs104893878
21 0.732 0.160 4 89835580 missense variant C/G snv 0.020 1.000 2 2001 2019
dbSNP: rs113994097
rs113994097
22 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 0.010 1.000 1 2008 2008
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: rs1057519629
rs1057519629
1 16 2498332 missense variant C/G;T snv 2.1E-05 0.700 1.000 1 2016 2016
dbSNP: rs2421947
rs2421947
2 1.000 0.040 1 171863954 intron variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs104893877
rs104893877
59 0.614 0.360 4 89828149 missense variant C/T snv 0.070 0.857 7 2001 2019
dbSNP: rs398122403
rs398122403
11 0.807 0.080 21 32695106 missense variant C/T snv 1.2E-05 0.050 1.000 5 2013 2016
dbSNP: rs63750424
rs63750424
30 0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05 0.030 1.000 3 2014 2018
dbSNP: rs63751273
rs63751273
42 0.645 0.280 17 46010389 missense variant C/T snv 0.030 1.000 3 2002 2017
dbSNP: rs63751438
rs63751438
16 0.776 0.120 17 46010388 missense variant C/T snv 0.020 1.000 2 2003 2007
dbSNP: rs104893875
rs104893875
13 0.742 0.120 4 89828170 missense variant C/T snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs113388242
rs113388242
3 0.925 0.080 3 184327376 missense variant C/T snv 4.0E-05 7.0E-05 0.010 1.000 1 2011 2011
dbSNP: rs1224426272
rs1224426272
CIT
6 0.925 0.040 12 119869138 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs188286943
rs188286943
9 0.776 0.160 16 46662452 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs45539432
rs45539432
5 0.851 0.040 1 20649109 stop gained C/T snv 4.0E-05 3.5E-05 0.010 1.000 1 2008 2008
dbSNP: rs63750577
rs63750577
8 0.827 0.120 14 73186881 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs781442277
rs781442277
3 1.000 0.040 2 24793223 missense variant C/T snv 4.0E-06; 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs80338892
rs80338892
TH
3 1.000 0.040 11 2167905 missense variant C/T snv 1.1E-04 1.4E-04 0.010 1.000 1 2017 2017
dbSNP: rs2230288
rs2230288
GBA
18 0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 0.700 0
dbSNP: rs756677845
rs756677845
1 1 20638074 frameshift variant G/- del 0.700 0
dbSNP: rs34637584
rs34637584
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.100 0.958 24 2005 2020