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: rs35541465
rs35541465
GAK
1 1.000 0.040 4 879499 intron variant TACT/-;TACTTACT delins 0.700 1.000 1 2016 2016
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.060 0.833 6 2007 2019
dbSNP: rs894278
rs894278
4 0.882 0.080 4 89813384 intron variant T/G snv 0.15 0.720 1.000 5 2009 2019
dbSNP: rs9697983
rs9697983
2 0.925 0.040 X 121049176 missense variant T/G snv 2.7E-02 3.2E-02 0.030 1.000 3 2010 2013
dbSNP: rs10513789
rs10513789
1 1.000 0.040 3 183042285 intron variant T/G snv 0.22 0.800 1.000 1 2011 2011
dbSNP: rs10516839
rs10516839
1 1.000 0.040 4 89587189 intron variant T/G snv 0.17 0.700 1.000 1 2011 2011
dbSNP: rs10929159
rs10929159
1 1.000 0.040 2 236024319 intron variant T/G snv 0.65 0.700 1.000 1 2017 2017
dbSNP: rs11564273
rs11564273
1 1.000 0.040 12 40204350 intron variant T/G snv 6.5E-02 0.700 1.000 1 2012 2012
dbSNP: rs1291370551
rs1291370551
GRN
3 0.882 0.120 17 44349468 missense variant T/G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs13016703
rs13016703
1 1.000 0.040 2 168299085 intergenic variant T/G snv 0.18 0.700 1.000 1 2016 2016
dbSNP: rs13294100
rs13294100
1 1.000 0.040 9 17579692 intron variant T/G snv 0.51 0.700 1.000 1 2017 2017
dbSNP: rs1536076
rs1536076
1 1.000 0.040 9 17731923 intron variant T/G snv 0.19 0.800 1.000 1 2012 2012
dbSNP: rs17763086
rs17763086
2 1.000 0.040 17 45828115 intron variant T/G snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs1801131
rs1801131
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2016 2016
dbSNP: rs2015
rs2015
3 0.925 0.120 19 38878729 3 prime UTR variant T/G snv 0.47 0.010 1.000 1 2019 2019
dbSNP: rs2074404
rs2074404
4 0.925 0.120 17 46788073 intron variant T/G snv 0.27 0.700 1.000 1 2011 2011
dbSNP: rs2744687
rs2744687
1 1.000 0.040 1 13812318 intron variant T/G snv 0.88 0.010 1.000 1 2011 2011
dbSNP: rs3785880
rs3785880
2 1.000 0.040 17 45916010 intron variant T/G snv 0.40 0.010 1.000 1 2011 2011
dbSNP: rs4792891
rs4792891
1 1.000 0.040 17 45896132 non coding transcript exon variant T/G snv 0.30 0.700 1.000 1 2011 2011
dbSNP: rs4911414
rs4911414
5 0.882 0.120 20 34141638 regulatory region variant T/G snv 0.73 0.010 < 0.001 1 2014 2014
dbSNP: rs557074
rs557074
3 1.000 0.040 6 7144958 intron variant T/G snv 0.27 0.700 1.000 1 2006 2006
dbSNP: rs5760423
rs5760423
1 1.000 0.040 22 24444150 intron variant T/G snv 0.52 0.010 1.000 1 2016 2016
dbSNP: rs610932
rs610932
5 0.851 0.080 11 60171834 downstream gene variant T/G snv 0.57 0.010 1.000 1 2016 2016
dbSNP: rs9614
rs9614
1 1.000 0.040 1 11650504 missense variant T/G snv 0.22 0.20 0.010 1.000 1 2017 2017
dbSNP: rs76763715
rs76763715
GBA
35 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.100 0.955 22 2004 2020