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: rs1784933
rs1784933
3 0.882 0.080 11 121618707 intron variant G/A snv 0.84 0.010 1.000 1 2016 2016
dbSNP: rs1799864
rs1799864
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.010 1.000 1 2018 2018
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2015 2015
dbSNP: rs1859788
rs1859788
3 0.925 0.080 7 100374211 missense variant A/C;G snv 4.0E-06; 0.65 0.010 1.000 1 2019 2019
dbSNP: rs2070045
rs2070045
4 0.851 0.080 11 121577381 synonymous variant T/G snv 0.32 0.23 0.010 1.000 1 2015 2015
dbSNP: rs2075650
rs2075650
45 0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 0.010 1.000 1 2018 2018
dbSNP: rs2230288
rs2230288
GBA
18 0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 0.010 1.000 1 2016 2016
dbSNP: rs2230806
rs2230806
24 0.689 0.280 9 104858586 missense variant C/T snv 0.32 0.39 0.010 1.000 1 2017 2017
dbSNP: rs227959
rs227959
1 1.000 0.040 17 3406923 upstream gene variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs2298813
rs2298813
7 0.790 0.120 11 121522975 missense variant G/A;T snv 7.2E-02; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs2534672
rs2534672
1 1.000 0.040 6 31497781 intron variant G/C snv 0.32 0.010 1.000 1 2017 2017
dbSNP: rs33939927
rs33939927
24 0.708 0.120 12 40310434 missense variant C/A;G;T snv 4.0E-06; 1.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs34637584
rs34637584
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.010 1.000 1 2017 2017
dbSNP: rs35445101
rs35445101
2 0.925 0.080 6 32579102 missense variant A/G snv 4.2E-04 2.7E-02 0.010 1.000 1 2017 2017
dbSNP: rs3747742
rs3747742
3 0.882 0.080 6 41194780 missense variant T/C snv 0.33 0.29 0.010 1.000 1 2019 2019
dbSNP: rs3756577
rs3756577
2 0.925 0.080 5 150249081 intron variant C/T snv 0.14 0.010 1.000 1 2016 2016
dbSNP: rs375752214
rs375752214
22 0.708 0.400 7 150998541 missense variant C/T snv 4.1E-06 4.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs3764650
rs3764650
9 0.790 0.200 19 1046521 intron variant T/G snv 0.14 0.010 1.000 1 2015 2015
dbSNP: rs3796529
rs3796529
3 0.925 0.080 4 56931248 missense variant C/T snv 0.22 0.22 0.010 1.000 1 2017 2017
dbSNP: rs3822606
rs3822606
2 0.925 0.080 5 150261592 intron variant G/A snv 0.27 0.010 1.000 1 2016 2016
dbSNP: rs391300
rs391300
SRR
4 0.882 0.160 17 2312964 intron variant T/C snv 0.58 0.010 1.000 1 2018 2018
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2015 2015
dbSNP: rs4684677
rs4684677
13 0.742 0.360 3 10286769 missense variant T/A snv 0.10 6.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs4717806
rs4717806
9 0.776 0.200 7 73702147 intron variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs4829605
rs4829605
1 1.000 0.040 X 137182822 intergenic variant C/A;G snv 0.010 1.000 1 2015 2015