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: rs768194029
rs768194029
NFATC2
1 20 51523286 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs769483065
rs769483065
HSP90AA1
1 14 102085426 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs775645890
rs775645890
UPK3B
1 7 76515192 missense variant C/T snv 0.010 1.000 1 2017 2017
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: rs779612015
rs779612015
UPK3B
1 7 76515186 missense variant C/T snv 4.7E-06 0.010 1.000 1 2017 2017
dbSNP: rs866604606
rs866604606
MAPK1
4 0.882 0.120 22 21772907 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs886039227
rs886039227
DCTN1
4 0.925 0.200 2 74378123 missense variant A/C snv 0.010 1.000 1 2018 2018
dbSNP: rs1235948930
rs1235948930
MAPT
4 0.882 0.120 17 45983865 missense variant C/T snv 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1005752506
rs1005752506
AMPH
1 7 38461398 missense variant G/A snv 7.0E-06 0.010 1.000 1 2012 2012
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: rs1189501362
rs1189501362
GSK3B
4 0.882 0.120 3 119863583 missense variant G/A snv 7.0E-06 0.010 1.000 1 2003 2003
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: rs763872192
rs763872192
CD36
4 0.882 0.080 7 80672000 missense variant C/T snv 2.8E-05 0.010 1.000 1 2017 2017
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: rs376388064
rs376388064
VEGFA
1 6 43782006 missense variant C/T snv 2.8E-05 3.5E-05 0.010 1.000 1 2017 2017
dbSNP: rs587778556
rs587778556
NFE2L2
2 2 177231705 missense variant G/A snv 3.2E-05 4.9E-05 0.020 1.000 2 2014 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: rs242557
rs242557
MAPT
12 0.752 0.200 17 45942346 intron variant G/A snv 0.36 0.010 1.000 1 2019 2019