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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 1.000 4 2001 2012
dbSNP: rs1289324472
rs1289324472
GBA
21 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.020 1.000 2 2014 2017
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 2016
dbSNP: rs28936380
rs28936380
PSEN2
5 0.827 0.080 1 226885546 missense variant C/G;T snv 1.2E-05 0.020 1.000 2 2003 2005
dbSNP: rs63750215
rs63750215
PSEN2
19 0.701 0.240 1 226885603 missense variant A/T snv 0.020 1.000 2 2006 2008
dbSNP: rs76763715
rs76763715
GBA
35 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.020 1.000 2 2014 2017
dbSNP: rs142690225
rs142690225
PSEN2
3 0.925 0.080 1 226894111 missense variant G/A snv 1.1E-04 1.1E-04 0.010 1.000 1 2008 2008
dbSNP: rs1805054
rs1805054
HTR6
17 0.708 0.200 1 19666020 synonymous variant C/T snv 0.15; 8.0E-06 0.16 0.010 1.000 1 2001 2001
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2004 2004
dbSNP: rs2228145
rs2228145
IL6R
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs3093059
rs3093059
CRP
11 0.752 0.520 1 159715346 upstream gene variant A/G snv 0.13 0.010 1.000 1 2016 2016
dbSNP: rs367543041
rs367543041
TARDBP
15 0.742 0.200 1 11022553 missense variant G/A;C snv 3.0E-05 0.010 1.000 1 2010 2010
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2004 2004
dbSNP: rs6330
rs6330
NGF ; NGF-AS1
12 0.763 0.240 1 115286692 missense variant G/A snv 0.37 0.36 0.010 1.000 1 2011 2011
dbSNP: rs6688832
rs6688832
H6PD
10 0.752 0.440 1 9263851 missense variant G/A;C snv 0.28; 1.2E-04 0.010 1.000 1 2007 2007
dbSNP: rs80356715
rs80356715
TARDBP
6 0.807 0.120 1 11016874 missense variant C/G;T snv 8.0E-06; 2.2E-04 0.010 1.000 1 2008 2008
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.020 1.000 2 2010 2011
dbSNP: rs1800587
rs1800587
IL1A
43 0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32 0.020 1.000 2 2012 2013
dbSNP: rs3087258
rs3087258
IL1B
2 0.925 0.080 2 112837294 upstream gene variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.020 1.000 2 2010 2011
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.020 1.000 2 2010 2011
dbSNP: rs17518584
rs17518584
CADM2
8 0.827 0.160 3 85555773 intron variant C/T snv 0.50 0.010 1.000 1 2019 2019
dbSNP: rs334558
rs334558
GSK3B ; LOC107986119
20 0.701 0.320 3 120094435 upstream gene variant A/G snv 0.51 0.010 1.000 1 2019 2019
dbSNP: rs5186
rs5186
AGTR1
38 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 0.010 1.000 1 2017 2017
dbSNP: rs104893877
rs104893877
SNCA
59 0.614 0.360 4 89828149 missense variant C/T snv 0.030 1.000 3 2017 2018