Source: ALL
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: rs893595382
rs893595382
DLG4
1 17 7196908 missense variant G/A snv 4.0E-06 7.0E-06 0.020 1.000 2 2015 2018
dbSNP: rs1348073540
rs1348073540
MAPK8 ; ARHGAP22
1 10 48431259 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1424794503
rs1424794503
MFGE8
1 15 88899478 missense variant G/A snv 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs34637584
rs34637584
LRRK2
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.010 1.000 1 2018 2018
dbSNP: rs398122403
rs398122403
SYNJ1
11 0.807 0.080 21 32695106 missense variant C/T snv 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs886039227
rs886039227
DCTN1
4 0.925 0.200 2 74378123 missense variant A/C snv 0.010 1.000 1 2018 2018
dbSNP: rs63751438
rs63751438
MAPT
16 0.776 0.120 17 46010388 missense variant C/T snv 0.100 1.000 13 2009 2019
dbSNP: rs143624519
rs143624519
MAPT
17 0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05 0.060 1.000 6 2011 2019
dbSNP: rs1235134025
rs1235134025
CAST
1 5 96740769 missense variant C/T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1411928276
rs1411928276
DCT
1 13 94479251 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs242557
rs242557
MAPT
12 0.752 0.200 17 45942346 intron variant G/A snv 0.36 0.010 1.000 1 2019 2019
dbSNP: rs752410089
rs752410089
CAST
1 5 96741548 missense variant C/G;T snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs768194029
rs768194029
NFATC2
1 20 51523286 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs776045205
rs776045205
CAST
1 5 96747369 missense variant C/A;T snv 6.4E-05; 2.4E-04 0.010 1.000 1 2019 2019
dbSNP: rs780325052
rs780325052
CAST
1 5 96746417 missense variant C/T snv 2.0E-05 3.5E-05 0.010 1.000 1 2019 2019
dbSNP: rs63751273
rs63751273
MAPT
42 0.645 0.280 17 46010389 missense variant C/T snv 0.100 0.952 21 2001 2020
dbSNP: rs1386984902
rs1386984902
APP
9 0.790 0.160 21 26000095 missense variant G/A snv 0.040 1.000 4 2006 2020
dbSNP: rs1314736087
rs1314736087
SYBU
5 0.851 0.120 8 109575782 frameshift variant GA/- delins 4.0E-06 0.010 1.000 1 2020 2020