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: 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: 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: rs35986369
rs35986369
RAB5A
2 1.000 0.040 3 19950975 frameshift variant -/GG delins 0.010 1.000 1 2004 2004
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: 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: rs201106962
rs201106962
SNCA
5 0.851 0.080 4 89828156 missense variant A/C snv 8.0E-05 7.0E-05 0.090 1.000 9 2013 2019
dbSNP: rs74163686
rs74163686
LRRK2
2 0.925 0.040 12 40309225 missense variant A/C snv 0.040 1.000 4 2010 2019
dbSNP: rs967582
rs967582
ELAVL4
1 1.000 0.040 1 50116500 intron variant A/C snv 0.42 0.020 1.000 2 2007 2008
dbSNP: rs1043424
rs1043424
PINK1 ; PINK1-AS
1 1.000 0.040 1 20650507 missense variant A/C snv 0.29 0.28 0.010 1.000 1 2004 2004
dbSNP: rs10518765
rs10518765
UNC13C
3 1.000 0.040 15 54388434 intron variant A/C snv 0.16 0.700 1.000 1 2006 2006
dbSNP: rs11186
rs11186
COL5A2
2 0.925 0.040 2 189032668 3 prime UTR variant A/C snv 9.4E-02 0.700 1.000 1 2016 2016
dbSNP: rs12364577
rs12364577
LOC440040
1 1.000 0.040 11 49685809 intron variant A/C snv 0.35 0.700 1.000 1 2006 2006
dbSNP: rs17425752
rs17425752
CRHR1 ; MAPT-AS1 ; LINC02210-CRHR1
1 1.000 0.040 17 45829360 splice region variant A/C snv 0.15 0.14 0.700 1.000 1 2011 2011
dbSNP: rs17564983
rs17564983
MAPT ; LOC105371800
2 1.000 0.040 17 45934459 intron variant A/C snv 0.14 0.700 1.000 1 2011 2011
dbSNP: rs1876487
rs1876487
SPR
2 1.000 0.040 2 72887223 upstream gene variant A/C snv 0.54 0.010 1.000 1 2003 2003
dbSNP: rs213462
rs213462 		1 1.000 0.040 X 83449447 intergenic variant A/C snv 0.50 0.700 1.000 1 2006 2006
dbSNP: rs2390669
rs2390669
STK39
2 1.000 0.040 2 168235432 intron variant A/C snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs2744690
rs2744690
PRDM2
1 1.000 0.040 1 13811306 intron variant A/C snv 0.87 0.010 1.000 1 2011 2011
dbSNP: rs34884217
rs34884217
TMEM175
2 0.925 0.080 4 950422 splice acceptor variant A/C snv 7.0E-02 6.8E-02 0.010 1.000 1 2020 2020
dbSNP: rs3820198
rs3820198
LRP8 ; LINC01771
1 1.000 0.040 1 53326979 missense variant A/C snv 0.40 0.50 0.010 < 0.001 1 2012 2012
dbSNP: rs397515634
rs397515634
UCHL1 ; UCHL1-AS1
3 0.925 0.040 4 41256996 missense variant A/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs5996696
rs5996696
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
1 1.000 0.040 22 24431654 intron variant A/C snv 0.12 0.010 1.000 1 2011 2011