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: rs1414323823
rs1414323823
4 0.851 0.160 15 74722772 frameshift variant -/TCTCGGT ins 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1559085
rs1559085
2 0.925 0.040 5 96742998 intron variant A/G snv 9.4E-02 0.010 1.000 1 2013 2013
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: 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: rs1879553
rs1879553
2 0.925 0.040 3 118896616 downstream gene variant A/G snv 7.3E-02 0.010 1.000 1 2016 2016
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: rs2736990
rs2736990
4 0.882 0.080 4 89757390 intron variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs27852
rs27852
1 1.000 0.040 5 96710335 intron variant A/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs28363170
rs28363170
7 0.827 0.120 5 1393745 3 prime UTR variant -/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC delins 8.1E-06 0.010 1.000 1 2016 2016
dbSNP: rs3129882
rs3129882
6 0.807 0.240 6 32441753 intron variant G/A snv 0.56 0.010 1.000 1 2011 2011
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: 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: rs34995376
rs34995376
7 0.807 0.080 12 40310435 missense variant G/A snv 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs356182
rs356182
3 0.882 0.080 4 89704960 intron variant G/A snv 0.65 0.010 1.000 1 2016 2016
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: rs3827336
rs3827336
1 1.000 0.040 22 32625012 intron variant C/G snv 9.1E-02 0.010 1.000 1 2014 2014
dbSNP: rs3836790
rs3836790
5 0.882 0.080 5 1411740 intron variant -/ACATACACACTCAGACACACATACCATGCA ins 0.010 1.000 1 2016 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: 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: 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: 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: rs56285021
rs56285021
2 0.925 0.040 5 122422868 missense variant T/C snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs5998557
rs5998557
1 1.000 0.040 22 32611052 intron variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs66737902
rs66737902
2 0.925 0.040 12 40367861 3 prime UTR variant T/C snv 0.14 0.010 1.000 1 2014 2014
dbSNP: rs6692804
rs6692804
1 1.000 0.040 1 109566120 intron variant G/A snv 0.29 0.010 1.000 1 2008 2008