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: rs1005752506
rs1005752506
AMPH
1 7 38461398 missense variant G/A snv 7.0E-06 0.010 1.000 1 2012 2012
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: rs1205185774
rs1205185774
AHSA1
4 0.882 0.120 14 77469161 missense variant C/T snv 0.010 1.000 1 2003 2003
dbSNP: rs1235134025
rs1235134025
CAST
1 5 96740769 missense variant C/T snv 4.0E-06 0.010 1.000 1 2019 2019
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: rs1300858963
rs1300858963
OGA
1 10 101799033 missense variant G/A snv 4.0E-06 0.010 1.000 1 2013 2013
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
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: rs1411928276
rs1411928276
DCT
1 13 94479251 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1424794503
rs1424794503
MFGE8
1 15 88899478 missense variant G/A snv 8.0E-06 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
dbSNP: rs281860580
rs281860580
HLA-B ; HLA-C
1 6 31270083 missense variant G/A;T snv 0.010 1.000 1 2014 2014
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: 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: 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: rs63750129
rs63750129
MAPT
4 0.882 0.120 17 45996612 missense variant A/C snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs63750349
rs63750349
MAPT
5 0.851 0.200 17 45996638 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs63750376
rs63750376
MAPT
7 0.827 0.120 17 45996657 missense variant G/T snv 0.010 < 0.001 1 2003 2003
dbSNP: rs63750416
rs63750416
MAPT
7 0.851 0.120 17 46010373 missense variant A/C snv 0.010 1.000 1 2017 2017
dbSNP: rs63750570
rs63750570
MAPT
8 0.827 0.120 17 46018629 missense variant G/A snv 0.010 1.000 1 2001 2001
dbSNP: rs63750635
rs63750635
MAPT
5 0.851 0.120 17 46014286 missense variant C/T snv 0.010 1.000 1 2002 2002
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: rs760073870
rs760073870
CAPN2
1 1 223752954 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2002 2002
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: rs768194029
rs768194029
NFATC2
1 20 51523286 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2019 2019