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: rs1227230819
rs1227230819
2 0.925 0.120 5 37815877 missense variant T/C snv 4.0E-06 0.010 1.000 1 2009 2009
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: rs1390458638
rs1390458638
2 0.925 0.120 2 219216441 missense variant G/A snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1880030
rs1880030
2 0.925 0.120 12 122046634 intron variant G/A snv 0.39 0.010 1.000 1 2009 2009
dbSNP: rs2070770
rs2070770
2 0.925 0.120 11 60463058 synonymous variant C/T snv 7.1E-02 5.4E-02 0.010 1.000 1 2015 2015
dbSNP: rs770027749
rs770027749
2 0.925 0.120 22 28795623 missense variant C/A;G snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs7712513
rs7712513
2 0.925 0.120 5 122582513 intergenic variant G/T snv 0.71 0.700 1.000 1 2015 2015
dbSNP: rs7765004
rs7765004
2 0.925 0.120 6 113750518 regulatory region variant A/C snv 0.32 0.700 1.000 1 2015 2015
dbSNP: rs111724149
rs111724149
2 0.925 0.120 11 45204720 missense variant A/G snv 1.8E-03 1.8E-03 0.700 0
dbSNP: rs35090414
rs35090414
2 0.925 0.120 11 45224227 missense variant G/A;T snv 1.5E-04; 8.2E-02 0.700 0
dbSNP: rs1178732315
rs1178732315
GBA
3 0.882 0.240 1 155236381 missense variant A/G snv 1.4E-05 0.010 1.000 1 2017 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: rs6449182
rs6449182
6 0.807 0.160 4 15778830 intron variant C/G snv 0.22 0.010 1.000 1 2015 2015
dbSNP: rs1801195
rs1801195
WRN
8 0.776 0.240 8 31141764 missense variant G/A;T snv 8.0E-06; 0.45 0.46 0.010 1.000 1 2013 2013
dbSNP: rs20551
rs20551
10 0.752 0.320 22 41152004 missense variant A/G snv 0.31 0.23 0.010 1.000 1 2017 2017
dbSNP: rs3758391
rs3758391
11 0.742 0.480 10 67883584 upstream gene variant T/C snv 0.64 0.010 1.000 1 2018 2018
dbSNP: rs1057520009
rs1057520009
14 0.790 0.200 2 61492337 missense variant C/T snv 4.4E-06 0.010 1.000 1 2017 2017
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: 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: rs121913255
rs121913255
26 0.667 0.400 1 114713907 missense variant T/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs17851045
rs17851045
27 0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs28933406
rs28933406
27 0.667 0.480 11 533875 missense variant G/C;T snv 0.010 1.000 1 2012 2012