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: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2006 2006
dbSNP: rs104894158
rs104894158
EGR2
5 0.851 0.080 10 62813835 missense variant A/T snv 0.010 1.000 1 2009 2009
dbSNP: rs281865051
rs281865051
LRRK2
2 1.000 0.040 12 40319998 missense variant T/C snv 0.010 1.000 1 2008 2008
dbSNP: rs3173615
rs3173615
TMEM106B
12 0.807 0.200 7 12229791 missense variant C/A;G snv 0.49 0.010 1.000 1 2017 2017
dbSNP: rs33939927
rs33939927
LRRK2
24 0.708 0.120 12 40310434 missense variant C/A;G;T snv 4.0E-06; 1.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs35986369
rs35986369
RAB5A
2 1.000 0.040 3 19950975 frameshift variant -/GG delins 0.010 1.000 1 2004 2004
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: rs63750756
rs63750756
MAPT
23 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 0.010 1.000 1 2003 2003
dbSNP: rs74315431
rs74315431
VAPB
15 0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs76732092
rs76732092
GTF2H1
1 11 18358030 missense variant C/A snv 0.010 1.000 1 2015 2015
dbSNP: rs76763715
rs76763715
GBA
35 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.010 1.000 1 2014 2014
dbSNP: rs786205232
rs786205232
KCNA2
5 0.925 0.040 1 110603893 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs80338777
rs80338777
CACNA1S
10 0.827 0.200 1 201077915 missense variant C/A;T snv 1.2E-05 0.010 1.000 1 2000 2000
dbSNP: rs80356727
rs80356727
TARDBP
3 0.925 0.080 1 11022400 missense variant C/A snv 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: rs138008832
rs138008832
PDGFRB
8 1.000 5 150123142 missense variant G/A;T snv 1.1E-04; 1.6E-05 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: rs200455852
rs200455852
ASAH1
6 0.851 0.200 8 18064458 missense variant T/C;G snv 5.8E-05 0.700 0
dbSNP: rs201893408
rs201893408
TMEM67
28 0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 0.700 0
dbSNP: rs397514698
rs397514698
GNAQ
52 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
dbSNP: rs564856283
rs564856283
MYBPC1
3 12 101642495 missense variant G/A;C snv 3.2E-05 0.700 0