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: rs10475878
rs10475878
1 1.000 5 168363199 intron variant G/A snv 0.40 0.010 1.000 1 2019 2019
dbSNP: rs1048230
rs1048230
5 0.827 0.160 12 50992283 synonymous variant A/G snv 0.17 0.15 0.010 1.000 1 2011 2011
dbSNP: rs112176450
rs112176450
7 0.807 0.080 3 184327401 missense variant G/A;T snv 2.1E-04 2.8E-04 0.010 1.000 1 2013 2013
dbSNP: rs1130214
rs1130214
12 0.742 0.280 14 104793397 5 prime UTR variant C/A snv 0.31 0.010 1.000 1 2016 2016
dbSNP: rs11564148
rs11564148
4 0.851 0.080 12 40320099 missense variant T/A snv 0.30 0.27 0.010 1.000 1 2017 2017
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 2003 2003
dbSNP: rs12678719
rs12678719
2 1.000 8 105503826 intron variant C/G snv 0.37 0.010 1.000 1 2012 2012
dbSNP: rs1272596579
rs1272596579
1 1.000 20 5112983 missense variant C/A;T snv 6.7E-06; 1.3E-05 0.010 1.000 1 2018 2018
dbSNP: rs1375532403
rs1375532403
2 0.925 0.040 19 48230930 missense variant C/T snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1386483
rs1386483
9 0.790 0.080 12 72018714 intron variant T/C snv 0.53 0.010 1.000 1 2007 2007
dbSNP: rs1386494
rs1386494
7 0.790 0.120 12 71958763 intron variant T/C;G snv 0.82 0.010 1.000 1 2007 2007
dbSNP: rs144863268
rs144863268
1 1.000 12 50992234 missense variant G/T snv 2.2E-03 1.9E-03 0.010 1.000 1 2011 2011
dbSNP: rs1450426641
rs1450426641
GBA
4 0.851 0.160 1 155235820 missense variant A/C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs2071421
rs2071421
7 0.790 0.200 22 50625988 missense variant T/C snv 0.17 0.19 0.010 1.000 1 1998 1998
dbSNP: rs2072374
rs2072374
1 1.000 12 6528679 splice region variant T/C snv 0.74 0.79 0.010 1.000 1 2014 2014
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: rs2242446
rs2242446
9 0.776 0.080 16 55656513 5 prime UTR variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs2276109
rs2276109
18 0.701 0.440 11 102875061 upstream gene variant T/C snv 9.2E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs2494732
rs2494732
11 0.763 0.240 14 104772855 intron variant T/C snv 0.50 0.47 0.010 1.000 1 2016 2016
dbSNP: rs2498799
rs2498799
2 0.925 0.040 14 104773557 synonymous variant C/T snv 0.010 1.000 1 2016 2016
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 0.010 1.000 1 2017 2017
dbSNP: rs34778348
rs34778348
15 0.742 0.120 12 40363526 missense variant G/A snv 1.7E-03 5.8E-04 0.010 1.000 1 2016 2016
dbSNP: rs3738136
rs3738136
3 0.882 0.040 1 20645618 missense variant G/A snv 9.2E-02 5.0E-02 0.010 1.000 1 2006 2006
dbSNP: rs3851179
rs3851179
15 0.752 0.280 11 86157598 downstream gene variant T/C snv 0.70 0.010 1.000 1 2017 2017
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2007 2007