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: rs652438
rs652438
14 0.716 0.400 11 102865911 missense variant T/C;G snv 7.1E-02; 2.5E-04 0.010 < 0.001 1 2018 2018
dbSNP: rs2276109
rs2276109
18 0.701 0.440 11 102875061 upstream gene variant T/C snv 9.2E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs2494732
rs2494732
11 0.763 0.240 14 104772855 intron variant T/C snv 0.50 0.47 0.010 1.000 1 2016 2016
dbSNP: rs2498799
rs2498799
2 0.925 0.040 14 104773557 synonymous variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs1130214
rs1130214
12 0.742 0.280 14 104793397 5 prime UTR variant C/A snv 0.31 0.010 1.000 1 2016 2016
dbSNP: rs12678719
rs12678719
2 1.000 8 105503826 intron variant C/G snv 0.37 0.010 1.000 1 2012 2012
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: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2016 2016
dbSNP: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.010 1.000 1 2016 2016
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2015 2015
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2007 2007
dbSNP: rs9697983
rs9697983
2 0.925 0.040 X 121049176 missense variant T/G snv 2.7E-02 3.2E-02 0.700 0
dbSNP: rs146930051
rs146930051
1 1.000 3 132467269 missense variant G/T snv 2.0E-05 4.2E-05 0.700 1.000 2 2014 2015
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: rs766013346
rs766013346
1 1.000 3 132492587 missense variant G/A;T snv 1.6E-05 0.700 0
dbSNP: rs145242123
rs145242123
1 1.000 3 132522838 missense variant C/A;T snv 4.1E-06; 1.5E-03 0.700 1.000 2 2014 2015
dbSNP: rs75822236
rs75822236
GBA
10 0.752 0.200 1 155235002 missense variant C/T snv 1.8E-04 6.1E-05 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: rs421016
rs421016
GBA
30 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.700 0
dbSNP: rs75671029
rs75671029
GBA
1 1.000 1 155235256 missense variant C/T snv 5.2E-04 2.3E-03 0.700 0
dbSNP: rs1064651
rs1064651
GBA
13 0.732 0.360 1 155235727 missense variant C/G snv 1.3E-04 2.0E-04 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: rs1557901552
rs1557901552
GBA
1 1.000 1 155235775 missense variant A/T snv 0.700 0
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: rs76763715
rs76763715
GBA
35 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.700 0