Source: ALL
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: rs1990622
rs1990622
16 0.742 0.200 7 12244161 downstream gene variant A/G snv 0.52 0.010 1.000 1 2017 2017
dbSNP: rs900147
rs900147
1 11 13272293 upstream gene variant G/A snv 0.62 0.010 1.000 1 2015 2015
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2006 2006
dbSNP: rs869312713
rs869312713
6 0.882 0.320 16 89280070 stop gained C/A snv 0.700 0
dbSNP: rs200455852
rs200455852
6 0.851 0.200 8 18064458 missense variant T/C;G snv 5.8E-05 0.700 0
dbSNP: rs606231435
rs606231435
18 0.827 0.240 19 41970539 missense variant C/T snv 0.700 0
dbSNP: rs146170087
rs146170087
7 0.925 0.040 19 29702747 missense variant T/C snv 2.3E-03 1.1E-03 0.700 0
dbSNP: rs515726205
rs515726205
7 0.882 0.040 19 29702966 missense variant C/T snv 2.4E-05 1.4E-05 0.700 0
dbSNP: rs80338777
rs80338777
10 0.827 0.200 1 201077915 missense variant C/A;T snv 1.2E-05 0.010 1.000 1 2000 2000
dbSNP: rs1554317002
rs1554317002
45 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
dbSNP: rs1057524157
rs1057524157
19 0.776 0.200 11 686962 missense variant A/C;T snv 0.700 1.000 2 2017 2017
dbSNP: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.010 < 0.001 1 2010 2010
dbSNP: rs104894158
rs104894158
5 0.851 0.080 10 62813835 missense variant A/T snv 0.010 1.000 1 2009 2009
dbSNP: rs3810651
rs3810651
4 0.925 0.080 X 152652814 missense variant A/C;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1564282
rs1564282
GAK
3 1.000 0.040 4 858525 intron variant C/T snv 8.1E-02 0.010 1.000 1 2014 2014
dbSNP: rs1289324472
rs1289324472
GBA
21 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs76763715
rs76763715
GBA
35 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 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 0.700 0
dbSNP: rs397514698
rs397514698
52 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
dbSNP: rs76732092
rs76732092
1 11 18358030 missense variant C/A snv 0.010 1.000 1 2015 2015
dbSNP: rs786205232
rs786205232
5 0.925 0.040 1 110603893 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs34016896
rs34016896
3 0.925 0.080 3 161275076 regulatory region variant C/T snv 0.28 0.010 1.000 1 2018 2018
dbSNP: rs281865051
rs281865051
2 1.000 0.040 12 40319998 missense variant T/C snv 0.010 1.000 1 2008 2008
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 2008 2008
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 2007 2007