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: rs421016
rs421016
GBA
30 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.100 0.962 26 2009 2020
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
dbSNP: rs1289324472
rs1289324472
GBA
21 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.100 0.950 20 2004 2019
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.933 15 2004 2019
dbSNP: rs28938172
rs28938172
7 0.790 0.080 1 7984981 missense variant T/C snv 0.100 1.000 13 2003 2017
dbSNP: rs2230288
rs2230288
GBA
18 0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 0.790 1.000 10 2012 2019
dbSNP: rs74315355
rs74315355
7 0.790 0.080 1 20644639 missense variant G/A snv 0.070 0.857 7 2005 2015
dbSNP: rs823156
rs823156
1 1.000 0.040 1 205795512 non coding transcript exon variant G/A snv 0.77 0.70 0.850 1.000 7 2011 2019
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.060 0.833 6 2007 2019
dbSNP: rs823118
rs823118
3 0.925 0.080 1 205754444 upstream gene variant C/A;T snv 0.730 0.833 6 2014 2020
dbSNP: rs823128
rs823128
1 1.000 0.040 1 205744250 intron variant G/A snv 0.88 0.850 1.000 6 2009 2018
dbSNP: rs947211
rs947211
3 0.925 0.040 1 205783537 non coding transcript exon variant A/G snv 0.64 0.840 1.000 6 2009 2017
dbSNP: rs10797576
rs10797576
1 1.000 0.040 1 232528865 intron variant C/T snv 0.12 0.730 1.000 5 2014 2018
dbSNP: rs11240572
rs11240572
1 1.000 0.040 1 205838885 intron variant C/A;T snv 0.730 1.000 5 2009 2016
dbSNP: rs147277743
rs147277743
2 0.925 0.040 1 16991749 missense variant C/T snv 1.8E-04 7.7E-05 0.050 0.400 5 2010 2016
dbSNP: rs74315351
rs74315351
6 0.807 0.080 1 7962863 missense variant G/A snv 0.050 0.600 5 2003 2016
dbSNP: rs1317187144
rs1317187144
GBA
4 0.851 0.120 1 155239889 missense variant T/C snv 4.0E-06 0.040 1.000 4 2014 2018
dbSNP: rs2421947
rs2421947
2 1.000 0.040 1 171863954 intron variant C/G;T snv 0.040 0.750 4 2018 2019
dbSNP: rs439898
rs439898
GBA
3 0.882 0.120 1 155238630 missense variant G/A snv 2.8E-05 0.040 1.000 4 2009 2016
dbSNP: rs708730
rs708730
1 1.000 0.040 1 205808652 intron variant G/A snv 0.66 0.720 1.000 4 2011 2015
dbSNP: rs1572931
rs1572931
2 0.925 0.080 1 205775090 splice region variant C/A;T snv 0.14 0.030 1.000 3 2014 2017
dbSNP: rs34372695
rs34372695
1 1.000 0.040 1 156060246 upstream gene variant C/G;T snv 1.5E-02 0.810 1.000 3 2011 2012
dbSNP: rs75548401
rs75548401
GBA
6 0.882 0.160 1 155236246 missense variant G/A snv 5.9E-03 6.2E-03 0.030 1.000 3 2016 2020
dbSNP: rs10788972
rs10788972
2 0.925 0.040 1 54106570 intron variant C/A snv 0.57 0.720 1.000 2 2015 2015
dbSNP: rs11240569
rs11240569
1 1.000 0.040 1 205810103 synonymous variant G/A snv 0.29 0.23 0.020 1.000 2 2015 2016