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: rs34637584
rs34637584
LRRK2
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.100 1.000 10 2005 2015
dbSNP: rs104893877
rs104893877
SNCA
59 0.614 0.360 4 89828149 missense variant C/T snv 0.070 1.000 7 1998 2018
dbSNP: rs188286943
rs188286943
VPS35
9 0.776 0.160 16 46662452 missense variant C/T snv 0.060 1.000 6 2012 2014
dbSNP: rs104893878
rs104893878
SNCA ; SNCA-AS1
21 0.732 0.160 4 89835580 missense variant C/G snv 0.030 1.000 3 1999 2006
dbSNP: rs34778348
rs34778348
LRRK2 ; LOC105369736
15 0.742 0.120 12 40363526 missense variant G/A snv 1.7E-03 5.8E-04 0.030 1.000 3 2006 2009
dbSNP: rs104893875
rs104893875
SNCA
13 0.742 0.120 4 89828170 missense variant C/T snv 4.0E-06 0.020 1.000 2 2006 2015
dbSNP: rs35870237
rs35870237
LRRK2
9 0.763 0.120 12 40340404 missense variant T/C snv 0.020 1.000 2 2009 2009
dbSNP: rs387907571
rs387907571
DNAJC13
6 0.827 0.080 3 132477995 missense variant A/G snv 4.2E-06 3.5E-05 0.020 1.000 2 2015 2015
dbSNP: rs10043
rs10043
CHCHD2
1 1.000 0.040 7 56106422 5 prime UTR variant A/C;T snv 0.80; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs112794616
rs112794616
LRRK2
1 1.000 0.040 12 40240543 missense variant C/A;T snv 4.0E-06; 1.7E-04 0.010 1.000 1 2007 2007
dbSNP: rs11448856
rs11448856
POLDIP2 ; TMEM199
1 1.000 0.040 17 28357365 frameshift variant C/-;CC delins 6.2E-06; 1.00 0.010 1.000 1 2006 2006
dbSNP: rs1224426272
rs1224426272
CIT
6 0.925 0.040 12 119869138 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs1345627905
rs1345627905
CRYAB ; HSPB2 ; HSPB2-C11orf52
1 1.000 0.040 11 111913790 synonymous variant G/A snv 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1418203843
rs1418203843
SNCA
1 1.000 0.040 4 89822353 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs142444896
rs142444896
CHCHD2
6 0.807 0.120 7 56106409 missense variant G/A snv 9.3E-03 7.5E-03 0.010 1.000 1 2016 2016
dbSNP: rs200274374
rs200274374
HOXD13
1 1.000 0.040 2 176093519 missense variant T/C snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs281865051
rs281865051
LRRK2
2 1.000 0.040 12 40319998 missense variant T/C snv 0.010 1.000 1 2008 2008
dbSNP: rs281865054
rs281865054
LRRK2
2 0.925 0.040 12 40323270 stop gained G/A;T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs33949390
rs33949390
LRRK2
9 0.776 0.160 12 40320043 missense variant G/A;C;T snv 1.6E-04; 1.9E-03; 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs356165
rs356165
SNCA
3 0.882 0.080 4 89725735 3 prime UTR variant G/A snv 0.54 0.010 1.000 1 2014 2014
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 2008 2008
dbSNP: rs67934205
rs67934205
POLDIP2 ; TMEM199
1 1.000 0.040 17 28357365 frameshift variant C/-;CC delins 0.010 1.000 1 2006 2006
dbSNP: rs763222239
rs763222239
EIF4G1
5 0.827 0.040 3 184322862 missense variant G/A snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs79996249
rs79996249
LRRK2
1 1.000 0.040 12 40263875 missense variant A/G snv 8.0E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs864309650
rs864309650
CHCHD2
4 0.851 0.040 7 56104344 missense variant G/A snv 0.010 1.000 1 2019 2019