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: rs11558538
rs11558538
HNMT ; LOC107985948
19 0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02 0.010 1.000 1 2008 2008
dbSNP: rs28936415
rs28936415
PMM2
22 0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 0.700 1.000 12 1997 2017
dbSNP: rs61755320
rs61755320
SPG7
41 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.700 1.000 13 2012 2017
dbSNP: rs118161496
rs118161496
NUBPL
2 1.000 0.040 14 31850092 non coding transcript exon variant T/C snv 3.4E-03 3.4E-03 0.700 1.000 14 1999 2013
dbSNP: rs6475
rs6475
CYP21A2
7 0.807 0.320 6 32039426 missense variant T/A snv 4.8E-04 1.2E-03 0.700 1.000 9 1998 2015
dbSNP: rs104893915
rs104893915
SLC26A2
10 0.776 0.200 5 149980428 missense variant C/T snv 9.8E-04 1.0E-03 0.700 1.000 6 1996 2010
dbSNP: rs80338933
rs80338933
SH3TC2
9 0.807 0.080 5 149026872 stop gained G/A snv 7.5E-04; 4.0E-06 6.6E-04 0.700 1.000 4 1997 2011
dbSNP: rs144900171
rs144900171
SYT1
5 0.925 12 79448968 missense variant C/G;T snv 1.3E-04 6.2E-04 0.700 0
dbSNP: rs137852695
rs137852695
PPT1
4 0.925 0.120 1 40091398 missense variant T/A snv 7.0E-04 6.0E-04 0.700 0
dbSNP: rs34778348
rs34778348
LRRK2 ; LOC105369736
15 0.742 0.120 12 40363526 missense variant G/A snv 1.7E-03 5.8E-04 0.010 1.000 1 2016 2016
dbSNP: rs727503493
rs727503493
TMPRSS3
2 1.000 0.120 21 42389043 frameshift variant G/- delins 4.9E-04 5.7E-04 0.700 1.000 6 2003 2017
dbSNP: rs768823392
rs768823392
SPG7
10 0.827 0.120 16 89546657 coding sequence variant GGCGGGAGA/- delins 2.6E-04 4.2E-04 0.700 1.000 13 2012 2017
dbSNP: rs34637584
rs34637584
LRRK2
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.720 1.000 10 2004 2018
dbSNP: rs80358259
rs80358259
NPC1
9 0.851 0.320 18 23536736 missense variant A/G snv 2.0E-04 2.4E-04 0.700 1.000 7 1997 2012
dbSNP: rs139515727
rs139515727
VARS2
2 1.000 6 30915985 missense variant C/T snv 3.2E-05 1.0E-04 0.700 1.000 6 2011 2017
dbSNP: rs587779406
rs587779406
HEXA
3 1.000 0.120 15 72346552 synonymous variant G/A snv 8.0E-05 1.0E-04 0.700 1.000 11 1986 2011
dbSNP: rs372754256
rs372754256
FLG ; FLG-AS1
3 1.000 1 152307855 stop gained G/C snv 4.7E-04 9.8E-05 0.700 1.000 6 1966 2013
dbSNP: rs185142838
rs185142838
ERCC6
5 0.851 0.400 10 49461473 stop gained G/A snv 1.4E-04 9.1E-05 0.700 1.000 7 1992 2016
dbSNP: rs387906639
rs387906639
HARS1 ; DND1
4 0.925 0.120 5 140674776 missense variant T/G snv 2.0E-05 9.1E-05 0.700 1.000 4 2012 2016
dbSNP: rs80338677
rs80338677
MAN2B1
4 0.925 0.080 19 12655693 splice donor variant C/G snv 9.3E-05 7.7E-05 0.700 1.000 6 1981 2015
dbSNP: rs121918243
rs121918243
MMACHC
5 0.882 0.160 1 45508848 missense variant G/A snv 1.7E-04 7.7E-05 0.700 1.000 7 2006 2015
dbSNP: rs148234606
rs148234606
SLC52A2
4 0.925 8 144360604 missense variant T/C snv 7.0E-05 7.7E-05 0.700 1.000 3 2012 2016
dbSNP: rs5030869
rs5030869
G6PD
4 0.882 0.120 X 154532990 missense variant C/A;T snv 5.5E-06; 1.9E-04 6.6E-05 0.700 1.000 5 1981 2008
dbSNP: rs201296399
rs201296399
KCTD7
1 7 66633320 missense variant A/G snv 5.6E-05 4.9E-05 0.700 1.000 10 2005 2016
dbSNP: rs746882521
rs746882521
PIGN
4 0.925 18 62143337 missense variant A/C snv 3.0E-05 4.9E-05 0.700 1.000 11 1999 2016