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: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.100 0.967 30 2006 2020
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 1.000 26 2006 2020
dbSNP: rs34637584
rs34637584
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.070 0.857 7 2010 2020
dbSNP: rs63751273
rs63751273
42 0.645 0.280 17 46010389 missense variant C/T snv 0.040 1.000 4 2017 2020
dbSNP: rs76763715
rs76763715
GBA
35 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.030 1.000 3 2014 2020
dbSNP: rs10748842
rs10748842
8 0.807 0.120 10 81889983 intron variant T/C snv 0.13 0.010 1.000 1 2020 2020
dbSNP: rs1314736087
rs1314736087
5 0.851 0.120 8 109575782 frameshift variant GA/- delins 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs3755557
rs3755557
6 0.807 0.280 3 120096110 non coding transcript exon variant T/A snv 0.14 0.010 1.000 1 2020 2020
dbSNP: rs387906315
rs387906315
GBA
8 0.790 0.160 1 155240660 frameshift variant -/C delins 5.2E-05 5.6E-05 0.010 1.000 1 2020 2020
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: rs75932628
rs75932628
28 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.010 1.000 1 2020 2020
dbSNP: rs80356773
rs80356773
GBA
3 0.925 0.080 1 155235002 missense variant C/T snv 0.010 1.000 1 2020 2020
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.909 11 2000 2019
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.060 1.000 6 2008 2019
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.060 1.000 6 2008 2019
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.050 1.000 5 2006 2019
dbSNP: rs104893878
rs104893878
21 0.732 0.160 4 89835580 missense variant C/G snv 0.020 0.500 2 2001 2019
dbSNP: rs2230288
rs2230288
GBA
18 0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 0.020 1.000 2 2016 2019
dbSNP: rs405509
rs405509
30 0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58 0.020 1.000 2 2016 2019
dbSNP: rs746682028
rs746682028
36 0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.020 1.000 2 2014 2019
dbSNP: rs77369218
rs77369218
GBA
7 0.807 0.160 1 155235726 missense variant T/A snv 0.020 1.000 2 2013 2019
dbSNP: rs10447760
rs10447760
4 0.851 0.040 7 114083210 upstream gene variant C/T snv 0.17 0.010 < 0.001 1 2019 2019
dbSNP: rs10521467
rs10521467
2 0.925 0.080 9 76036575 intron variant A/G snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs1126680
rs1126680
5 0.851 0.160 3 165837337 synonymous variant C/T snv 5.6E-02 5.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs112961612
rs112961612
1 1.000 0.040 20 41872026 intergenic variant T/A snv 8.2E-02 0.700 1.000 1 2019 2019