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: rs7157599
rs7157599
6 0.925 0.040 14 100159565 missense variant C/T snv 0.73 0.76 0.010 1.000 1 2015 2015
dbSNP: rs761715536
rs761715536
3 1.000 0.040 10 111079092 stop gained G/A;T snv 6.4E-06; 1.3E-05 0.010 1.000 1 2019 2019
dbSNP: rs1801131
rs1801131
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2014 2014
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2014 2014
dbSNP: rs1611115
rs1611115
DBH
16 0.732 0.280 9 133635393 upstream gene variant T/C snv 0.80 0.010 1.000 1 2018 2018
dbSNP: rs1108580
rs1108580
DBH
9 0.790 0.240 9 133639992 splice region variant A/G snv 0.45 0.54 0.010 1.000 1 2018 2018
dbSNP: rs2344484
rs2344484
3 0.925 0.040 5 135540941 upstream gene variant A/G snv 0.47 0.010 1.000 1 2008 2008
dbSNP: rs5522
rs5522
19 0.732 0.320 4 148436323 missense variant C/T snv 0.88 0.89 0.010 1.000 1 2013 2013
dbSNP: rs77369218
rs77369218
GBA
7 0.807 0.160 1 155235726 missense variant T/A snv 0.010 1.000 1 2013 2013
dbSNP: rs75548401
rs75548401
GBA
6 0.882 0.160 1 155236246 missense variant G/A snv 5.9E-03 6.2E-03 0.010 1.000 1 2019 2019
dbSNP: rs2230288
rs2230288
GBA
18 0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 0.020 1.000 2 2016 2019
dbSNP: rs1018381
rs1018381
6 0.882 0.040 6 15656839 intron variant G/A snv 0.16 0.010 1.000 1 2009 2009
dbSNP: rs1315695444
rs1315695444
2 1.000 0.040 1 169611580 missense variant C/G snv 4.0E-06 1.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs28936379
rs28936379
10 0.807 0.120 1 226888977 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2016 2016
dbSNP: rs1223904774
rs1223904774
APP
8 0.790 0.120 21 25891772 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1800557
rs1800557
APP
3 0.925 0.040 21 25891795 missense variant G/A snv 4.0E-05 4.2E-05 0.010 1.000 1 1994 1994
dbSNP: rs572842823
rs572842823
APP
11 0.763 0.160 21 25897626 missense variant T/A;G snv 0.020 1.000 2 2004 2012
dbSNP: rs371425292
rs371425292
APP
10 0.763 0.160 21 25897627 missense variant C/A;T snv 8.0E-06 0.020 1.000 2 2004 2012
dbSNP: rs1386984902
rs1386984902
APP
9 0.790 0.160 21 26000095 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs11136000
rs11136000
CLU
19 0.752 0.160 8 27607002 intron variant T/C snv 0.56 0.010 1.000 1 2019 2019
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.020 1.000 2 2015 2018
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.020 1.000 2 2015 2018
dbSNP: rs121909668
rs121909668
FUS
8 0.790 0.120 16 31191418 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs33939927
rs33939927
24 0.708 0.120 12 40310434 missense variant C/A;G;T snv 4.0E-06; 1.2E-05 0.010 1.000 1 2016 2016