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: rs12593813
rs12593813
2 1.000 0.080 15 67744514 intron variant A/G snv 0.53 0.010 1.000 1 2015 2015
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: rs3794087
rs3794087
6 0.851 0.120 11 35308068 intron variant G/T snv 0.20 0.010 1.000 1 2013 2013
dbSNP: rs6600879
rs6600879
1 4 69094669 intron variant C/G snv 0.58 0.010 1.000 1 2012 2012
dbSNP: rs6600880
rs6600880
1 4 69094762 intron variant T/A snv 0.58 0.010 1.000 1 2012 2012
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: rs757600616
rs757600616
6 0.882 0.240 1 119033279 stop gained G/A snv 1.2E-05 0.700 0
dbSNP: rs781939614
rs781939614
11 0.851 0.240 1 145916914 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs781984979
rs781984979
11 0.851 0.240 1 145912346 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs869312713
rs869312713
6 0.882 0.320 16 89280070 stop gained C/A snv 0.700 0
dbSNP: rs104893878
rs104893878
21 0.732 0.160 4 89835580 missense variant C/G snv 0.020 1.000 2 2003 2004
dbSNP: rs1057524157
rs1057524157
19 0.776 0.200 11 686962 missense variant A/C;T snv 0.700 1.000 2 2017 2017
dbSNP: rs104894158
rs104894158
5 0.851 0.080 10 62813835 missense variant A/T snv 0.010 1.000 1 2009 2009
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: rs281865051
rs281865051
2 1.000 0.040 12 40319998 missense variant T/C snv 0.010 1.000 1 2008 2008
dbSNP: rs3173615
rs3173615
12 0.807 0.200 7 12229791 missense variant C/A;G snv 0.49 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 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
dbSNP: rs3810651
rs3810651
4 0.925 0.080 X 152652814 missense variant A/C;T snv 0.010 1.000 1 2011 2011
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: rs63750756
rs63750756
23 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 0.010 1.000 1 2003 2003
dbSNP: rs74315431
rs74315431
15 0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs7439366
rs7439366
16 0.752 0.320 4 69098620 missense variant T/C snv 0.56 0.57 0.010 1.000 1 2012 2012
dbSNP: rs76732092
rs76732092
1 11 18358030 missense variant C/A snv 0.010 1.000 1 2015 2015
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