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: rs10997870
rs10997870
2 1.000 0.040 10 67908257 intron variant G/T snv 0.47 0.010 1.000 1 2016 2016
dbSNP: rs12720208
rs12720208
3 0.925 0.040 8 16992890 3 prime UTR variant G/A snv 5.5E-02 0.010 1.000 1 2018 2018
dbSNP: rs1290141855
rs1290141855
3 1.000 0.040 16 55698539 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs161645
rs161645
2 1.000 0.040 5 104734216 intron variant A/G snv 0.77 0.010 1.000 1 2013 2013
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: rs2239547
rs2239547
6 0.882 0.040 3 52821213 intron variant T/C snv 0.27 0.010 1.000 1 2018 2018
dbSNP: rs2535629
rs2535629
9 0.827 0.040 3 52799203 intron variant G/A;C snv 0.010 < 0.001 1 2018 2018
dbSNP: rs3821831
rs3821831
2 1.000 0.040 3 52819385 splice region variant C/T snv 0.29 0.29 0.010 1.000 1 2018 2018
dbSNP: rs6191
rs6191
4 0.925 0.040 5 143278591 3 prime UTR variant C/A snv 0.48 0.010 1.000 1 2011 2011
dbSNP: rs7208505
rs7208505
2 1.000 0.040 17 59110368 3 prime UTR variant G/A;C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs736408
rs736408
2 1.000 0.040 3 52801338 intron variant C/T snv 0.47 0.010 < 0.001 1 2018 2018
dbSNP: rs9296158
rs9296158
16 0.763 0.080 6 35599305 intron variant A/G snv 0.65 0.020 1.000 2 2015 2019
dbSNP: rs9470080
rs9470080
13 0.827 0.080 6 35678658 intron variant T/A;C snv 0.020 1.000 2 2011 2019
dbSNP: rs112025902
rs112025902
4 0.925 0.080 4 120232669 intron variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs115482041
rs115482041
4 0.925 0.080 9 4860267 missense variant C/T snv 2.6E-03 2.3E-03 0.010 1.000 1 2018 2018
dbSNP: rs1200746244
rs1200746244
11 0.807 0.080 1 11801287 missense variant C/T snv 4.0E-06 7.0E-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: rs228644
rs228644
2 1.000 0.080 1 7806023 intron variant G/A snv 0.36 0.010 1.000 1 2015 2015
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: 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: rs80356773
rs80356773
GBA
3 0.925 0.080 1 155235002 missense variant C/T snv 0.010 1.000 1 2020 2020
dbSNP: rs936306
rs936306
3 0.925 0.080 15 51287401 intron variant C/T snv 0.30 0.010 1.000 1 2006 2006
dbSNP: rs110402
rs110402
12 0.790 0.120 17 45802681 intron variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs1202184
rs1202184
7 0.851 0.120 7 87584585 intron variant C/T snv 0.39 0.010 1.000 1 2011 2011
dbSNP: rs1207568
rs1207568
KL
3 0.925 0.120 13 33016046 upstream gene variant G/A snv 0.17 0.010 1.000 1 2017 2017