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: rs3836790
rs3836790
SLC6A3
5 0.882 0.080 5 1411740 intron variant -/ACATACACACTCAGACACACATACCATGCA ins 0.010 < 0.001 1 2016 2016
dbSNP: rs777296100
rs777296100
SNCA
2 0.925 0.080 4 89725318 3 prime UTR variant -/TAA;TAAAA ins 0.010 1.000 1 2017 2017
dbSNP: rs879253853
rs879253853
VPS13C
1 1.000 0.040 15 62013057 frameshift variant -/TCTG ins 0.700 1.000 1 2016 2016
dbSNP: rs387906410
rs387906410
CDKN2A
4 0.882 0.080 9 21971019 missense variant GC/AG mnv 0.010 1.000 1 2007 2007
dbSNP: rs1485215606
rs1485215606
CASP3
1 1.000 0.040 4 184632296 frameshift variant A/- del 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs541455835
rs541455835
KANSL1
1 1.000 0.040 17 46099939 intron variant A/- del 0.14 0.010 1.000 1 2018 2018
dbSNP: rs28363170
rs28363170
SLC6A3
7 0.827 0.120 5 1393745 3 prime UTR variant -/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC delins 8.1E-06 0.030 0.667 3 2016 2019
dbSNP: rs35479735
rs35479735
NR4A2
1 1.000 0.040 2 156326700 intron variant C/- delins 0.71 0.79 0.020 0.500 2 2017 2017
dbSNP: rs142821586
rs142821586
TMEM175
1 1.000 0.040 4 945302 intron variant CT/- delins 3.5E-02 0.010 1.000 1 2015 2015
dbSNP: rs35541465
rs35541465
GAK
1 1.000 0.040 4 879499 intron variant TACT/-;TACTTACT delins 0.700 1.000 1 2016 2016
dbSNP: rs35986369
rs35986369
RAB5A
2 1.000 0.040 3 19950975 frameshift variant -/GG delins 0.010 1.000 1 2004 2004
dbSNP: rs3832852
rs3832852
A2M ; KLRG1
2 0.925 0.080 12 9093581 splice acceptor variant ATGGT/- delins 0.010 < 0.001 1 2016 2016
dbSNP: rs387906315
rs387906315
GBA
8 0.790 0.160 1 155240660 frameshift variant -/C delins 5.2E-05 5.6E-05 0.010 1.000 1 2020 2020
dbSNP: rs776070150
rs776070150
MTX1 ; THBS3
1 1.000 0.040 1 155208977 inframe deletion CGTGACTCTCCGAGGCGC/- delins 0.010 1.000 1 2011 2011
dbSNP: rs869312811
rs869312811
VPS13C
2 0.925 0.040 15 61947292 frameshift variant G/- delins 0.700 1.000 1 2016 2016
dbSNP: rs932546861
rs932546861
ADH1B ; ADH1C
1 1.000 0.040 4 99347032 frameshift variant C/- delins 0.010 1.000 1 2005 2005
dbSNP: rs34637584
rs34637584
LRRK2
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.900 0.996 260 2005 2020
dbSNP: rs104893877
rs104893877
SNCA
59 0.614 0.360 4 89828149 missense variant C/T snv 0.100 0.980 153 1997 2020
dbSNP: rs104893878
rs104893878
SNCA ; SNCA-AS1
21 0.732 0.160 4 89835580 missense variant C/G snv 0.100 0.957 70 1998 2019
dbSNP: rs34778348
rs34778348
LRRK2 ; LOC105369736
15 0.742 0.120 12 40363526 missense variant G/A snv 1.7E-03 5.8E-04 0.900 0.925 53 2006 2019
dbSNP: rs33939927
rs33939927
LRRK2
24 0.708 0.120 12 40310434 missense variant C/A;G;T snv 4.0E-06; 1.2E-05 0.100 1.000 46 2005 2019
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.100 0.833 30 2002 2020
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 0.100 0.931 29 2008 2019
dbSNP: rs104893875
rs104893875
SNCA
13 0.742 0.120 4 89828170 missense variant C/T snv 4.0E-06 0.100 1.000 28 2005 2019
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 0.821 28 2002 2019