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: rs1264519280
rs1264519280
KHDRBS1
2 1.000 0.040 1 32014083 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs34637584
rs34637584
LRRK2
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.020 1.000 2 2006 2014
dbSNP: rs34015634
rs34015634
LRRK2
8 0.851 0.120 12 40340380 missense variant T/C snv 3.2E-05 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs35801418
rs35801418
LRRK2
7 0.827 0.120 12 40321114 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs143624519
rs143624519
MAPT
17 0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05 0.030 0.667 3 2012 2019
dbSNP: rs63751438
rs63751438
MAPT
16 0.776 0.120 17 46010388 missense variant C/T snv 0.020 1.000 2 2014 2019
dbSNP: rs1052553
rs1052553
MAPT
8 0.827 0.200 17 45996523 synonymous variant A/G snv 0.14 0.15 0.010 1.000 1 2013 2013
dbSNP: rs2435200
rs2435200
MAPT
5 0.925 0.080 17 45994485 intron variant G/A snv 0.40 0.010 1.000 1 2019 2019
dbSNP: rs2435211
rs2435211
MAPT
1 17 45985878 intron variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs63750376
rs63750376
MAPT
7 0.827 0.120 17 45996657 missense variant G/T snv 0.010 1.000 1 2004 2004
dbSNP: rs63750570
rs63750570
MAPT
8 0.827 0.120 17 46018629 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs63750756
rs63750756
MAPT
23 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs63750869
rs63750869
MAPT
6 0.827 0.160 17 46018707 missense variant G/A snv 2.4E-05 5.6E-05 0.010 1.000 1 2011 2011
dbSNP: rs9468
rs9468
MAPT
6 0.882 0.080 17 46024197 3 prime UTR variant T/C snv 0.15 0.14 0.010 1.000 1 2012 2012
dbSNP: rs537742207
rs537742207
MDH2
3 1.000 0.080 7 76054974 missense variant A/G snv 8.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs771845093
rs771845093
MFN2
3 0.925 0.160 1 12005903 missense variant G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2004 2016
dbSNP: rs1272951905
rs1272951905
MTHFSD
3 0.925 0.160 16 86532210 missense variant C/T snv 2.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs267606900
rs267606900
MTPAP
2 1.000 10 30313926 missense variant T/C snv 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs759504704
rs759504704
NARS2
4 0.882 0.200 11 78436786 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs200161705
rs200161705
NEK1
5 0.882 0.160 4 169585374 missense variant C/A;T snv 6.0E-05; 2.3E-03 0.010 1.000 1 2019 2019
dbSNP: rs587778556
rs587778556
NFE2L2
2 2 177231705 missense variant G/A snv 3.2E-05 4.9E-05 0.010 1.000 1 2014 2014
dbSNP: rs755135182
rs755135182
NFE2L2
2 2 177231657 missense variant G/A snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs72824905
rs72824905
PLCG2
6 0.827 0.200 16 81908423 missense variant C/G;T snv 5.2E-03 0.010 1.000 1 2019 2019
dbSNP: rs1049564
rs1049564
PNP
6 0.882 0.160 14 20472447 missense variant G/A snv 0.19 0.21 0.010 1.000 1 2007 2007