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: rs397515634
rs397515634
UCHL1 ; UCHL1-AS1
3 0.925 0.040 4 41256996 missense variant A/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs63750311
rs63750311
PSEN1
8 0.790 0.240 14 73192647 missense variant A/C snv 0.010 1.000 1 2002 2002
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2004 2016
dbSNP: rs104893922
rs104893922
SMN1 ; SMN2
3 0.925 0.080 5 70946157 missense variant A/G snv 0.010 1.000 1 2000 2000
dbSNP: rs1052553
rs1052553
MAPT
8 0.827 0.200 17 45996523 synonymous variant A/G snv 0.14 0.15 0.010 1.000 1 2013 2013
dbSNP: rs119467003
rs119467003
TDP1
4 0.882 0.080 14 89993420 missense variant A/G snv 2.1E-05 0.010 1.000 1 2007 2007
dbSNP: rs121912443
rs121912443
SOD1
15 0.732 0.160 21 31663857 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs1265011107
rs1265011107
WDTC1
3 1.000 0.080 1 27283372 missense variant A/G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1428103360
rs1428103360
SMN2
2 1.000 0.040 5 70070732 missense variant A/G snv 0.010 1.000 1 2000 2000
dbSNP: rs17125721
rs17125721
PSEN1
14 0.763 0.120 14 73206470 missense variant A/G snv 1.5E-02 1.5E-02 0.010 < 0.001 1 2005 2005
dbSNP: rs1799990
rs1799990
PRNP
23 0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 0.010 < 0.001 1 2010 2010
dbSNP: rs1990622
rs1990622 		16 0.742 0.200 7 12244161 downstream gene variant A/G snv 0.52 0.010 1.000 1 2014 2014
dbSNP: rs35801418
rs35801418
LRRK2
7 0.827 0.120 12 40321114 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs537742207
rs537742207
MDH2
3 1.000 0.080 7 76054974 missense variant A/G snv 8.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs80356740
rs80356740
TARDBP
2 1.000 1 11022556 missense variant A/G snv 1.7E-05 0.010 1.000 1 2008 2008
dbSNP: rs156697
rs156697
GSTO2
25 0.672 0.560 10 104279427 missense variant A/G;T snv 0.35 0.010 1.000 1 2018 2018
dbSNP: rs3857059
rs3857059
SNCA
2 1.000 0.040 4 89754087 intron variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs104893768
rs104893768
RHO
11 0.807 0.080 3 129528801 missense variant C/A snv 0.020 1.000 2 2002 2014
dbSNP: rs4925
rs4925
GSTO1
28 0.677 0.560 10 104263031 missense variant C/A snv 0.25 0.23 0.010 1.000 1 2018 2018
dbSNP: rs5030732
rs5030732
UCHL1 ; UCHL1-AS1
10 0.790 0.160 4 41257616 missense variant C/A snv 0.24 0.16 0.010 1.000 1 2017 2017
dbSNP: rs752933837
rs752933837
PRKCG
2 1.000 0.080 19 53906776 missense variant C/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs1481950
rs1481950
ATP6V1H
2 1.000 0.080 8 53777725 intron variant C/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs3173615
rs3173615
TMEM106B
12 0.807 0.200 7 12229791 missense variant C/A;G snv 0.49 0.010 1.000 1 2018 2018
dbSNP: rs121909329
rs121909329
VCP
11 0.763 0.200 9 35065363 missense variant C/A;G;T snv 0.010 1.000 1 2012 2012