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: rs104893878
rs104893878
SNCA ; SNCA-AS1
21 0.732 0.160 4 89835580 missense variant C/G snv 0.020 1.000 2 2003 2004
dbSNP: rs1057524157
rs1057524157
DEAF1
19 0.776 0.200 11 686962 missense variant A/C;T snv 0.700 1.000 2 2017 2017
dbSNP: rs104894158
rs104894158
EGR2
5 0.851 0.080 10 62813835 missense variant A/T snv 0.010 1.000 1 2009 2009
dbSNP: rs12593813
rs12593813
MAP2K5
2 1.000 0.080 15 67744514 intron variant A/G snv 0.53 0.010 1.000 1 2015 2015
dbSNP: rs1289324472
rs1289324472
GBA
21 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs1564282
rs1564282
GAK
3 1.000 0.040 4 858525 intron variant C/T snv 8.1E-02 0.010 1.000 1 2014 2014
dbSNP: rs1990622
rs1990622 		16 0.742 0.200 7 12244161 downstream gene variant A/G snv 0.52 0.010 1.000 1 2017 2017
dbSNP: rs281865051
rs281865051
LRRK2
2 1.000 0.040 12 40319998 missense variant T/C snv 0.010 1.000 1 2008 2008
dbSNP: rs34016896
rs34016896
LOC105374187
3 0.925 0.080 3 161275076 regulatory region variant C/T snv 0.28 0.010 1.000 1 2018 2018
dbSNP: rs35986369
rs35986369
RAB5A
2 1.000 0.040 3 19950975 frameshift variant -/GG delins 0.010 1.000 1 2004 2004
dbSNP: rs3794087
rs3794087
SLC1A2
6 0.851 0.120 11 35308068 intron variant G/T snv 0.20 0.010 1.000 1 2013 2013
dbSNP: rs3810651
rs3810651
GABRQ ; LOC105373370
4 0.925 0.080 X 152652814 missense variant A/C;T snv 0.010 1.000 1 2011 2011
dbSNP: rs6600879
rs6600879
UGT2B7
1 4 69094669 intron variant C/G snv 0.58 0.010 1.000 1 2012 2012
dbSNP: rs6600880
rs6600880
UGT2B7
1 4 69094762 intron variant T/A snv 0.58 0.010 1.000 1 2012 2012
dbSNP: rs6600893
rs6600893
UGT2B7
2 4 69113183 downstream gene variant T/C snv 0.59 0.010 1.000 1 2012 2012
dbSNP: rs76732092
rs76732092
GTF2H1
1 11 18358030 missense variant C/A snv 0.010 1.000 1 2015 2015
dbSNP: rs80356727
rs80356727
TARDBP
3 0.925 0.080 1 11022400 missense variant C/A snv 0.010 1.000 1 2015 2015
dbSNP: rs900147
rs900147 		1 11 13272293 upstream gene variant G/A snv 0.62 0.010 1.000 1 2015 2015
dbSNP: rs1057518839
rs1057518839
MPZ
4 1.000 1 161305924 missense variant A/C snv 0.700 0
dbSNP: rs1421405659
rs1421405659
MYBPC1
13 0.851 0.360 12 101642529 missense variant T/C;G snv 0.700 0
dbSNP: rs1554317002
rs1554317002
CDK13 ; LOC112267983
45 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
dbSNP: rs1569548274
rs1569548274
MECP2
43 0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 0.700 0
dbSNP: rs397514698
rs397514698
GNAQ
52 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
dbSNP: rs587777721
rs587777721
SCN8A
4 0.925 0.160 12 51806336 missense variant G/A snv 0.700 0
dbSNP: rs606231435
rs606231435
ATP1A3
18 0.827 0.240 19 41970539 missense variant C/T snv 0.700 0