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: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 0.964 28 2007 2020
dbSNP: rs1360780
rs1360780
31 0.708 0.320 6 35639794 intron variant T/A;C snv 0.030 1.000 3 2015 2019
dbSNP: rs1800947
rs1800947
CRP
28 0.683 0.440 1 159713648 splice region variant C/A;G;T snv 4.4E-05; 5.1E-02; 4.0E-06 0.020 1.000 2 2018 2019
dbSNP: rs53576
rs53576
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.020 1.000 2 2019 2020
dbSNP: rs6318
rs6318
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.020 1.000 2 2014 2018
dbSNP: rs9470080
rs9470080
13 0.827 0.080 6 35678658 intron variant T/A;C snv 0.020 1.000 2 2011 2019
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2015 2015
dbSNP: rs1080963
rs1080963
1 22 15376497 intergenic variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs110402
rs110402
12 0.790 0.120 17 45802681 intron variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs112025902
rs112025902
4 0.925 0.080 4 120232669 intron variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs11265263
rs11265263
2 1 159740727 intergenic variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs11932595
rs11932595
12 0.827 0.160 4 55457430 intron variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1220000453
rs1220000453
5 0.882 0.120 11 58624189 synonymous variant C/T snv 0.010 < 0.001 1 2006 2006
dbSNP: rs138191010
rs138191010
1 7 145416641 intergenic variant G/T snv 0.010 < 0.001 1 2017 2017
dbSNP: rs1403522266
rs1403522266
1 4 47320137 missense variant A/G snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1409851868
rs1409851868
6 0.882 0.080 3 89399325 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs1799889
rs1799889
31 0.649 0.600 7 101126430 upstream gene variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs1876831
rs1876831
4 0.925 0.040 17 45830379 non coding transcript exon variant C/G;T snv 4.4E-06; 0.14 0.010 1.000 1 2014 2014
dbSNP: rs2175898
rs2175898
2 6 151875817 intron variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs2287161
rs2287161
7 0.827 0.080 12 106987362 upstream gene variant C/G;T snv 0.010 1.000 1 2020 2020
dbSNP: rs2535629
rs2535629
9 0.827 0.040 3 52799203 intron variant G/A;C snv 0.010 < 0.001 1 2018 2018
dbSNP: rs27072
rs27072
11 0.807 0.120 5 1394407 3 prime UTR variant C/A;T snv 0.010 1.000 1 2018 2018
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 2020 2020
dbSNP: rs686
rs686
9 0.807 0.080 5 175441697 3 prime UTR variant G/A;C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs6994992
rs6994992
13 0.790 0.120 8 31638065 upstream gene variant C/A;T snv 0.010 1.000 1 2014 2014