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: rs4880
rs4880
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2014 2014
dbSNP: rs11868035
rs11868035
14 0.763 0.200 17 17811787 splice region variant G/A snv 0.45 0.33 0.010 1.000 1 2018 2018
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.020 1.000 2 2015 2016
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 < 0.001 1 2010 2010
dbSNP: rs5030732
rs5030732
10 0.790 0.160 4 41257616 missense variant C/A snv 0.24 0.16 0.060 0.833 6 2001 2011
dbSNP: rs2066842
rs2066842
15 0.763 0.200 16 50710713 missense variant C/A;T snv 4.0E-06; 0.19 0.010 1.000 1 2013 2013
dbSNP: rs7669
rs7669
2 0.925 0.040 13 27435714 missense variant G/A;C snv 0.15 0.15 0.010 1.000 1 2007 2007
dbSNP: rs1801474
rs1801474
4 0.851 0.080 6 162201165 missense variant C/T snv 7.1E-02 5.3E-02 0.010 1.000 1 1999 1999
dbSNP: rs1801334
rs1801334
4 0.851 0.040 6 161360193 missense variant C/T snv 2.5E-02 2.5E-02 0.010 1.000 1 2005 2005
dbSNP: rs4866
rs4866
5 0.827 0.240 7 2249951 missense variant G/A snv 2.2E-02 1.8E-02 0.010 < 0.001 1 2000 2000
dbSNP: rs142444896
rs142444896
6 0.807 0.120 7 56106409 missense variant G/A snv 9.3E-03 7.5E-03 0.020 1.000 2 2015 2016
dbSNP: rs41549716
rs41549716
4 0.882 0.200 15 89321842 missense variant T/C snv 6.6E-03 7.0E-03 0.010 1.000 1 2007 2007
dbSNP: rs33949390
rs33949390
9 0.776 0.160 12 40320043 missense variant G/A;C;T snv 1.6E-04; 1.9E-03; 8.0E-06 0.030 1.000 3 2008 2015
dbSNP: rs34778348
rs34778348
15 0.742 0.120 12 40363526 missense variant G/A snv 1.7E-03 5.8E-04 0.090 1.000 9 2007 2019
dbSNP: rs421016
rs421016
GBA
30 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.010 1.000 1 2010 2010
dbSNP: rs34410987
rs34410987
3 0.882 0.040 12 40283897 missense variant C/T snv 7.4E-04 2.2E-04 0.010 1.000 1 2008 2008
dbSNP: rs34637584
rs34637584
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.100 0.968 31 2005 2019
dbSNP: rs112176450
rs112176450
7 0.807 0.080 3 184327401 missense variant G/A;T snv 2.1E-04 2.8E-04 0.010 < 0.001 1 2013 2013
dbSNP: rs141366047
rs141366047
3 0.882 0.120 6 161785829 missense variant G/A;C;T snv 4.0E-06; 1.2E-05; 9.6E-05 0.010 1.000 1 2005 2005
dbSNP: rs752169833
rs752169833
3 0.925 0.040 7 56102878 missense variant C/A;T snv 8.0E-06; 5.6E-05 0.010 1.000 1 2016 2016
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 2008 2008
dbSNP: rs374880482
rs374880482
CHM
2 0.925 0.040 X 85963748 missense variant T/C snv 3.3E-05 2.8E-05 0.010 1.000 1 2020 2020
dbSNP: rs34015634
rs34015634
8 0.851 0.120 12 40340380 missense variant T/C snv 3.2E-05 1.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs755509970
rs755509970
1 1.000 0.040 7 2244708 missense variant T/C snv 2.1E-05 1.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs33939927
rs33939927
24 0.708 0.120 12 40310434 missense variant C/A;G;T snv 4.0E-06; 1.2E-05 0.060 0.833 6 2006 2013