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: rs6812193
rs6812193
FAM47E ; FAM47E-STBD1 ; LOC105377286
3 0.882 0.080 4 76277833 intron variant C/T snv 0.38 0.010 1.000 1 2015 2015
dbSNP: rs7702187
rs7702187
SEMA5A
2 0.925 0.040 5 9332169 intron variant T/A snv 0.70 0.010 1.000 1 2006 2006
dbSNP: rs823144
rs823144
RAB29 ; LOC105371702
2 0.925 0.040 1 205775418 5 prime UTR variant C/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs849898
rs849898
LOC107985355
2 0.925 0.040 1 227966216 intergenic variant A/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs9323124
rs9323124
MDGA2 ; RPA2P1
2 0.925 0.040 14 46996974 non coding transcript exon variant T/A snv 0.23 0.010 1.000 1 2016 2016
dbSNP: rs947211
rs947211
LOC105371702
3 0.925 0.040 1 205783537 non coding transcript exon variant A/G snv 0.64 0.010 1.000 1 2015 2015
dbSNP: rs9652490
rs9652490
LINGO1
4 0.851 0.080 15 77671545 intron variant A/G snv 0.28 0.010 1.000 1 2010 2010
dbSNP: rs763222239
rs763222239
EIF4G1
5 0.827 0.040 3 184322862 missense variant G/A snv 4.0E-06 0.010 < 0.001 1 2013 2013
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs121917767
rs121917767
UCHL1
6 0.827 0.120 4 41260751 missense variant C/A;G;T snv 4.0E-05; 4.0E-06; 2.0E-05 0.010 1.000 1 2008 2008
dbSNP: rs1366901063
rs1366901063
HSPA8 ; SNORD14C ; SNORD14D ; LOC101929289
2 0.925 0.040 11 123060725 missense variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs767543900
rs767543900
MAPT
10 0.790 0.120 17 45971879 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs141366047
rs141366047
PRKN
3 0.882 0.120 6 161785829 missense variant G/A;C;T snv 4.0E-06; 1.2E-05; 9.6E-05 0.010 1.000 1 2005 2005
dbSNP: rs33939927
rs33939927
LRRK2
24 0.708 0.120 12 40310434 missense variant C/A;G;T snv 4.0E-06; 1.2E-05 0.060 0.833 6 2006 2013
dbSNP: rs1414323823
rs1414323823
CYP1A1
4 0.851 0.160 15 74722772 frameshift variant -/TCTCGGT ins 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs56285021
rs56285021
SNCAIP
2 0.925 0.040 5 122422868 missense variant T/C snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs2066842
rs2066842
NOD2
15 0.763 0.200 16 50710713 missense variant C/A;T snv 4.0E-06; 0.19 0.010 1.000 1 2013 2013
dbSNP: rs752169833
rs752169833
CHCHD2
3 0.925 0.040 7 56102878 missense variant C/A;T snv 8.0E-06; 5.6E-05 0.010 1.000 1 2016 2016
dbSNP: rs753359396
rs753359396
TH
1 1.000 0.040 11 2168093 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2017 2017
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 0.030 1.000 3 2008 2015
dbSNP: rs421016
rs421016
GBA
30 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.010 1.000 1 2010 2010
dbSNP: rs775129424
rs775129424
ACMSD ; CCNT2-AS1
1 1.000 0.040 2 134898383 missense variant G/A snv 8.2E-06 0.010 1.000 1 2017 2017
dbSNP: rs755509970
rs755509970
NUDT1
1 1.000 0.040 7 2244708 missense variant T/C snv 2.1E-05 1.4E-05 0.010 1.000 1 2008 2008
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 2010 2010
dbSNP: rs374880482
rs374880482
CHM
2 0.925 0.040 X 85963748 missense variant T/C snv 3.3E-05 2.8E-05 0.010 1.000 1 2020 2020