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: rs147484110
rs147484110
11 0.807 0.200 21 43774760 splice acceptor variant C/G snv 1.5E-04 2.7E-04 0.700 1.000 6 1996 2012
dbSNP: rs796943858
rs796943858
4 0.882 0.080 21 43774280 frameshift variant GA/- delins 2.0E-05 5.6E-05 0.700 1.000 5 1997 2008
dbSNP: rs104893950
rs104893950
2 0.925 0.080 6 145627691 stop gained G/A;C snv 7.7E-05 0.700 1.000 3 1998 2014
dbSNP: rs545986367
rs545986367
4 0.882 0.080 21 43774690 stop gained G/A snv 3.2E-05 7.0E-06 0.700 1.000 3 1996 2016
dbSNP: rs141554661
rs141554661
3 0.925 0.040 17 46932200 splice donor variant G/A snv 1.0E-04 2.6E-04 0.700 1.000 1 2011 2011
dbSNP: rs1568177307
rs1568177307
1 1.000 0.040 17 46935027 splice acceptor variant A/G snv 0.700 1.000 1 2011 2011
dbSNP: rs200053119
rs200053119
2 0.925 0.040 4 76181016 stop gained G/A snv 8.0E-06 2.8E-05 0.700 1.000 1 2014 2014
dbSNP: rs781291421
rs781291421
1 1.000 0.040 6 145635468 stop gained C/A;T snv 1.2E-05; 2.8E-05 0.700 1.000 1 2004 2004
dbSNP: rs1569006250
rs1569006250
1 1.000 0.040 21 43776206 stop gained G/A snv 0.700 0
dbSNP: rs727502818
rs727502818
26 0.790 0.160 11 17772053 missense variant G/A snv 0.020 1.000 2 2017 2019
dbSNP: rs121909053
rs121909053
3 0.882 0.120 3 167825265 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs1282461046
rs1282461046
1 1.000 0.040 12 46364420 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs141191660
rs141191660
1 1.000 0.040 7 66639189 missense variant A/G snv 1.2E-05 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs145873635
rs145873635
4 0.851 0.160 8 18075541 missense variant G/A snv 1.2E-05 3.5E-05 0.010 1.000 1 2015 2015
dbSNP: rs364897
rs364897
GBA
6 0.807 0.120 1 155238215 missense variant T/C snv 7.2E-05 1.0E-04 0.010 1.000 1 2019 2019
dbSNP: rs387907261
rs387907261
2 0.925 0.040 7 66639180 missense variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs535896234
rs535896234
GBA
3 0.882 0.120 1 155237399 missense variant T/C snv 1.8E-04 3.5E-05 0.010 1.000 1 2019 2019