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: rs1800890
rs1800890
29 0.658 0.400 1 206776020 intron variant A/T snv 0.32 0.030 1.000 3 2010 2015
dbSNP: rs116446171
rs116446171
4 0.851 0.160 6 484453 downstream gene variant C/G snv 2.3E-02 0.710 1.000 2 2014 2015
dbSNP: rs1178732315
rs1178732315
GBA
3 0.882 0.240 1 155236381 missense variant A/G snv 1.4E-05 0.020 1.000 2 2015 2017
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.020 1.000 2 2015 2017
dbSNP: rs10484561
rs10484561
6 0.827 0.160 6 32697643 intergenic variant T/G snv 0.13 0.010 1.000 1 2011 2011
dbSNP: rs1057519695
rs1057519695
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.010 1.000 1 1997 1997
dbSNP: rs1057519834
rs1057519834
31 0.658 0.480 1 114713908 missense variant TG/CT mnv 0.010 1.000 1 1997 1997
dbSNP: rs11045879
rs11045879
4 1.000 0.120 12 21229685 intron variant T/C snv 0.18 0.010 1.000 1 2014 2014
dbSNP: rs11554290
rs11554290
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.010 1.000 1 1997 1997
dbSNP: rs1164376164
rs1164376164
6 0.851 0.200 7 87601024 5 prime UTR variant A/G snv 0.010 1.000 1 2013 2013
dbSNP: rs121913238
rs121913238
17 0.732 0.240 12 25227343 missense variant G/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs121913240
rs121913240
24 0.672 0.440 12 25227342 missense variant T/A;C;G snv 0.010 1.000 1 1997 1997
dbSNP: rs121913250
rs121913250
25 0.683 0.440 1 114716127 missense variant C/A;G;T snv 0.010 1.000 1 1997 1997
dbSNP: rs121913254
rs121913254
31 0.658 0.440 1 114713909 stop gained G/A;C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs121913255
rs121913255
26 0.667 0.400 1 114713907 missense variant T/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs121913338
rs121913338
24 0.677 0.400 7 140753354 missense variant T/A;C;G snv 0.010 1.000 1 2012 2012
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2012 2012
dbSNP: rs121913496
rs121913496
16 0.724 0.440 11 533873 missense variant C/A;G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs121913530
rs121913530
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.010 1.000 1 1997 1997
dbSNP: rs1239470707
rs1239470707
2 0.925 0.120 3 12416785 missense variant C/A snv 0.010 1.000 1 2012 2012
dbSNP: rs1312391542
rs1312391542
2 0.925 0.120 6 106104897 missense variant G/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs1323292
rs1323292
3 0.882 0.160 1 192571891 intron variant G/A snv 0.86 0.700 1.000 1 2019 2019
dbSNP: rs13255292
rs13255292
2 0.925 0.120 8 128064327 intron variant C/T snv 0.24 0.700 1.000 1 2014 2014
dbSNP: rs140522
rs140522
11 0.851 0.160 22 50532837 upstream gene variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs1443292790
rs1443292790
2 1.000 0.120 17 63929438 missense variant T/C snv 0.010 1.000 1 2019 2019