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: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1472351089
rs1472351089
1 1.000 0.040 1 107480764 missense variant G/A snv 4.4E-06 0.010 1.000 1 2019 2019
dbSNP: rs1521179
rs1521179
1 1.000 0.040 1 151800911 3 prime UTR variant G/A snv 0.10 5.3E-02 0.010 < 0.001 1 2012 2012
dbSNP: rs369753226
rs369753226
1 1.000 0.040 1 107480824 missense variant G/A snv 6.1E-06 0.010 1.000 1 2019 2019
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2004 2004
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 2013 2013
dbSNP: rs61746299
rs61746299
1 1.000 0.040 1 151801375 missense variant T/A;C snv 9.9E-02; 4.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs6675307
rs6675307
1 1.000 0.040 1 90181314 intergenic variant G/A snv 0.37 0.700 1.000 1 2016 2016
dbSNP: rs761288161
rs761288161
1 1.000 0.040 1 107480722 missense variant G/A snv 4.1E-06 0.010 1.000 1 2019 2019
dbSNP: rs11558538
rs11558538
19 0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02 0.020 1.000 2 2008 2010
dbSNP: rs72470545
rs72470545
6 0.807 0.280 2 74532698 missense variant G/A snv 4.0E-03 2.5E-03 0.020 1.000 2 2014 2017
dbSNP: rs1143633
rs1143633
11 0.752 0.280 2 112832890 intron variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs6431308
rs6431308
1 1.000 0.040 2 234898985 intron variant A/C snv 0.33 0.700 1.000 1 2016 2016
dbSNP: rs781183862
rs781183862
1 1.000 0.040 2 20623988 synonymous variant G/A;C snv 8.0E-06 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs893787
rs893787
1 1.000 0.040 2 12046209 intron variant T/C snv 0.51 0.700 1.000 1 2016 2016
dbSNP: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.060 0.500 6 2006 2016
dbSNP: rs138607170
rs138607170
4 0.882 0.080 3 38925454 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs387907571
rs387907571
6 0.827 0.080 3 132477995 missense variant A/G snv 4.2E-06 3.5E-05 0.710 1.000 1 2015 2015
dbSNP: rs832032
rs832032
2 1.000 0.040 3 98007903 stop gained A/G;T snv 0.22 0.010 1.000 1 2011 2011
dbSNP: rs10937625
rs10937625
1 1.000 0.040 4 5126432 intron variant T/C snv 0.24 0.730 1.000 3 2016 2018
dbSNP: rs17590046
rs17590046
1 1.000 0.040 4 24360918 intergenic variant T/C snv 0.18 0.730 0.667 3 2016 2018
dbSNP: rs4690686
rs4690686
1 1.000 0.040 4 176321808 non coding transcript exon variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1129647
rs1129647
3 0.882 0.240 5 161854239 synonymous variant T/C snv 0.26 0.24 0.010 1.000 1 2006 2006
dbSNP: rs1186902
rs1186902
2 1.000 0.040 6 89217243 missense variant T/C snv 0.27 0.22 0.010 1.000 1 2011 2011
dbSNP: rs12200969
rs12200969
1 1.000 0.040 6 89217247 missense variant T/C snv 0.31 0.37 0.010 1.000 1 2011 2011