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: rs886039227
rs886039227
4 0.925 0.200 2 74378123 missense variant A/C snv 0.020 1.000 2 2014 2018
dbSNP: rs201106962
rs201106962
5 0.851 0.080 4 89828156 missense variant A/C snv 8.0E-05 7.0E-05 0.010 1.000 1 2013 2013
dbSNP: rs63750416
rs63750416
7 0.851 0.120 17 46010373 missense variant A/C snv 0.010 1.000 1 2001 2001
dbSNP: rs421016
rs421016
GBA
30 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.730 1.000 3 2016 2018
dbSNP: rs767543900
rs767543900
10 0.790 0.120 17 45971879 missense variant A/C;G snv 4.0E-06 0.010 < 0.001 1 2017 2017
dbSNP: rs775809722
rs775809722
2 1.000 0.040 1 20633925 missense variant A/C;G snv 5.3E-06; 3.7E-05 0.010 1.000 1 2008 2008
dbSNP: rs139548132
rs139548132
2 1.000 1 119140608 missense variant A/C;G;T snv 3.2E-03; 1.6E-05; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 < 0.001 1 2010 2010
dbSNP: rs121917763
rs121917763
TH
5 0.925 0.040 11 2167896 missense variant A/G snv 1.2E-05 7.0E-06 0.030 1.000 3 1996 1999
dbSNP: rs387907571
rs387907571
6 0.827 0.080 3 132477995 missense variant A/G snv 4.2E-06 3.5E-05 0.020 1.000 2 2014 2015
dbSNP: rs35801418
rs35801418
7 0.827 0.120 12 40321114 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs63750072
rs63750072
3 1.000 0.080 17 45983493 missense variant A/G snv 4.0E-02 3.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs63750590
rs63750590
10 0.790 0.120 14 73186860 missense variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 0.500 2 2003 2010
dbSNP: rs41311141
rs41311141
1 22 32484019 synonymous variant A/G;T snv 3.4E-02 0.010 1.000 1 2016 2016
dbSNP: rs137852538
rs137852538
3 0.925 0.080 X 78117385 missense variant A/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1417802320
rs1417802320
1 1 7962861 missense variant A/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs752078407
rs752078407
3 1.000 0.080 20 3910806 missense variant A/T snv 6.4E-05 3.5E-05 0.010 1.000 1 2015 2015
dbSNP: rs55739947
rs55739947
1 15 101010802 missense variant C/A snv 9.3E-03 8.4E-03 0.010 1.000 1 2010 2010
dbSNP: rs74315360
rs74315360
3 0.925 0.040 1 20638104 missense variant C/A snv 0.010 1.000 1 2017 2017
dbSNP: rs1555507479
rs1555507479
12 0.807 0.160 16 56336799 missense variant C/A snv 0.700 0
dbSNP: rs33939927
rs33939927
24 0.708 0.120 12 40310434 missense variant C/A;G;T snv 4.0E-06; 1.2E-05 0.030 1.000 3 2008 2014
dbSNP: rs267604921
rs267604921
3 0.925 0.160 17 45993953 missense variant C/A;G;T snv 6.3E-05; 2.5E-04; 5.3E-06 0.010 1.000 1 2016 2016
dbSNP: rs368134308
rs368134308
4 0.882 0.040 6 162443356 missense variant C/A;G;T snv 3.2E-05; 2.6E-04 0.010 1.000 1 2001 2001
dbSNP: rs121918304
rs121918304
4 0.925 0.080 22 32498453 stop gained C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2014 2014