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: rs3135500
rs3135500
5 0.851 0.160 16 50732975 3 prime UTR variant G/A snv 0.44 0.010 1.000 1 2018 2018
dbSNP: rs12817488
rs12817488
3 1.000 0.040 12 122811747 intron variant G/A snv 0.39 0.010 1.000 1 2014 2014
dbSNP: rs242557
rs242557
12 0.752 0.200 17 45942346 intron variant G/A snv 0.36 0.010 1.000 1 2011 2011
dbSNP: rs2942168
rs2942168
4 0.925 0.120 17 45637484 non coding transcript exon variant G/A;C;T snv 0.14 0.010 1.000 1 2014 2014
dbSNP: rs63750072
rs63750072
3 1.000 0.080 17 45983493 missense variant A/G snv 4.0E-02 3.8E-02 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 0.700 0
dbSNP: rs55739947
rs55739947
1 15 101010802 missense variant C/A snv 9.3E-03 8.4E-03 0.010 1.000 1 2010 2010
dbSNP: rs71653619
rs71653619
4 1.000 0.040 1 7970934 missense variant G/A snv 7.9E-03 7.0E-03 0.010 1.000 1 2016 2016
dbSNP: rs41549716
rs41549716
4 0.882 0.200 15 89321842 missense variant T/C snv 6.6E-03 7.0E-03 0.010 1.000 1 2007 2007
dbSNP: rs113994097
rs113994097
22 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 0.010 1.000 1 2008 2008
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 2007 2007
dbSNP: rs34637584
rs34637584
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.100 0.958 24 2005 2020
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 2011 2011
dbSNP: rs80338892
rs80338892
TH
3 1.000 0.040 11 2167905 missense variant C/T snv 1.1E-04 1.4E-04 0.010 1.000 1 2017 2017
dbSNP: rs111501952
rs111501952
2 1.000 0.040 12 40310461 missense variant G/A snv 4.4E-05 7.7E-05 0.010 1.000 1 2013 2013
dbSNP: rs201106962
rs201106962
5 0.851 0.080 4 89828156 missense variant A/C snv 8.0E-05 7.0E-05 0.010 1.000 1 2013 2013
dbSNP: rs113388242
rs113388242
3 0.925 0.080 3 184327376 missense variant C/T snv 4.0E-05 7.0E-05 0.010 1.000 1 2011 2011
dbSNP: rs387907571
rs387907571
6 0.827 0.080 3 132477995 missense variant A/G snv 4.2E-06 3.5E-05 0.020 1.000 2 2014 2015
dbSNP: rs28940285
rs28940285
2 1.000 0.040 1 20645640 missense variant T/C snv 1.6E-05 3.5E-05 0.010 1.000 1 2007 2007
dbSNP: rs752078407
rs752078407
3 1.000 0.080 20 3910806 missense variant A/T snv 6.4E-05 3.5E-05 0.010 1.000 1 2015 2015
dbSNP: rs45539432
rs45539432
5 0.851 0.040 1 20649109 stop gained C/T snv 4.0E-05 3.5E-05 0.010 1.000 1 2008 2008
dbSNP: rs758414077
rs758414077
FTL
1 19 48966681 synonymous variant G/A snv 8.0E-06 2.8E-05 0.010 1.000 1 2005 2005
dbSNP: rs121908683
rs121908683
5 0.925 0.080 22 38115667 missense variant G/A snv 9.0E-06 2.1E-05 0.010 1.000 1 2009 2009
dbSNP: rs104894685
rs104894685
FTL
4 0.925 0.120 19 48966317 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs34015634
rs34015634
8 0.851 0.120 12 40340380 missense variant T/C snv 3.2E-05 1.4E-05 0.010 1.000 1 2016 2016