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: rs62063857
rs62063857
MAPT ; STH
3 0.882 0.120 17 45999299 missense variant A/G snv 0.14 0.15 0.010 1.000 1 2015 2015
dbSNP: rs72554080
rs72554080
3 0.925 0.040 2 232747740 missense variant A/G snv 2.6E-04 3.2E-04 0.010 1.000 1 2009 2009
dbSNP: rs368134308
rs368134308
4 0.882 0.040 6 162443356 missense variant C/A;G;T snv 3.2E-05; 2.6E-04 0.700 1.000 4 2003 2018
dbSNP: rs11564148
rs11564148
4 0.851 0.080 12 40320099 missense variant T/A snv 0.30 0.27 0.010 1.000 1 2017 2017
dbSNP: rs1450426641
rs1450426641
GBA
4 0.851 0.160 1 155235820 missense variant A/C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs894278
rs894278
4 0.882 0.080 4 89813384 intron variant T/G snv 0.15 0.010 1.000 1 2017 2017
dbSNP: rs1048230
rs1048230
5 0.827 0.160 12 50992283 synonymous variant A/G snv 0.17 0.15 0.010 1.000 1 2011 2011
dbSNP: rs763222239
rs763222239
5 0.827 0.040 3 184322862 missense variant G/A snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs80356718
rs80356718
5 0.827 0.120 1 11022209 missense variant A/G snv 7.6E-05 4.9E-05 0.010 1.000 1 2018 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 0.010 1.000 1 2003 2003
dbSNP: rs387907571
rs387907571
6 0.827 0.080 3 132477995 missense variant A/G snv 4.2E-06 3.5E-05 0.800 1.000 1 2014 2014
dbSNP: rs72470545
rs72470545
6 0.807 0.280 2 74532698 missense variant G/A snv 4.0E-03 2.5E-03 0.010 1.000 1 2016 2016
dbSNP: rs74315352
rs74315352
6 0.807 0.080 1 7984930 missense variant A/C snv 1.4E-04 5.9E-04 0.010 1.000 1 2005 2005
dbSNP: rs112176450
rs112176450
7 0.807 0.080 3 184327401 missense variant G/A;T snv 2.1E-04 2.8E-04 0.010 1.000 1 2013 2013
dbSNP: rs1386494
rs1386494
7 0.790 0.120 12 71958763 intron variant T/C;G snv 0.82 0.010 1.000 1 2007 2007
dbSNP: rs2071421
rs2071421
7 0.790 0.200 22 50625988 missense variant T/C snv 0.17 0.19 0.010 1.000 1 1998 1998
dbSNP: rs7133914
rs7133914
7 0.790 0.120 12 40309109 missense variant G/A;T snv 8.5E-02; 1.6E-05 0.010 1.000 1 2017 2017
dbSNP: rs7308720
rs7308720
7 0.790 0.120 12 40263898 missense variant C/A;G snv 4.0E-06; 8.7E-02 0.010 1.000 1 2017 2017
dbSNP: rs774005786
rs774005786
8 0.790 0.080 1 7970951 missense variant G/A;T snv 3.9E-04; 2.0E-05 0.010 1.000 1 2005 2005
dbSNP: rs104886460
rs104886460
GBA
8 0.776 0.160 1 155240629 splice donor variant C/A;T snv 7.6E-05 0.700 0
dbSNP: rs78973108
rs78973108
GBA
8 0.776 0.160 1 155237453 missense variant C/T snv 2.8E-05 4.2E-05 0.700 0
dbSNP: rs80356769
rs80356769
GBA
8 0.776 0.160 1 155235772 missense variant C/A snv 3.2E-05 7.0E-06 0.700 0
dbSNP: rs80356771
rs80356771
GBA
8 0.776 0.160 1 155235196 missense variant G/A;T snv 7.2E-05; 4.0E-06 0.700 0
dbSNP: rs188286943
rs188286943
9 0.776 0.160 16 46662452 missense variant C/T snv 0.040 1.000 4 2011 2015
dbSNP: rs1386483
rs1386483
9 0.790 0.080 12 72018714 intron variant T/C snv 0.53 0.010 1.000 1 2007 2007