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: rs63750756
rs63750756
MAPT
23 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 0.100 1.000 10 2000 2019
dbSNP: rs63750050
rs63750050
PSEN1
5 0.925 0.080 14 73198106 missense variant T/G snv 0.010 1.000 1 2010 2010
dbSNP: rs63750802
rs63750802
PSEN1
7 0.851 0.080 14 73219144 missense variant T/G snv 0.010 1.000 1 2013 2013
dbSNP: rs76763715
rs76763715
GBA
35 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.020 1.000 2 2013 2016
dbSNP: rs113994099
rs113994099
POLG
10 0.827 0.240 15 89320883 missense variant T/C snv 0.020 1.000 2 2007 2013
dbSNP: rs1289324472
rs1289324472
GBA
21 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.020 1.000 2 2013 2016
dbSNP: rs1290141855
rs1290141855
SLC6A2
3 1.000 0.040 16 55698539 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs28940285
rs28940285
PINK1 ; PINK1-AS
2 1.000 0.040 1 20645640 missense variant T/C snv 1.6E-05 3.5E-05 0.010 1.000 1 2007 2007
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: rs41549716
rs41549716
POLG
4 0.882 0.200 15 89321842 missense variant T/C snv 6.6E-03 7.0E-03 0.010 1.000 1 2007 2007
dbSNP: rs63750680
rs63750680
PSEN1
2 1.000 0.080 14 73198076 missense variant T/C snv 0.010 1.000 1 2004 2004
dbSNP: rs748705829
rs748705829
SIRT3
1 11 233109 missense variant T/C snv 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1057518882
rs1057518882
CYTB ; ND5 ; ND6
2 MT 14598 missense variant T/C snv 0.700 0
dbSNP: rs63751032
rs63751032
PSEN1
7 0.851 0.080 14 73219156 missense variant T/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs63751165
rs63751165
MAPT
3 0.925 0.120 17 46010401 missense variant G/A;T snv 0.020 1.000 2 2004 2005
dbSNP: rs112176450
rs112176450
EIF4G1
7 0.807 0.080 3 184327401 missense variant G/A;T snv 2.1E-04 2.8E-04 0.010 1.000 1 2011 2011
dbSNP: rs1426868527
rs1426868527
PINK1 ; MIR6084
3 1 20633841 missense variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs143624519
rs143624519
MAPT
17 0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs752804472
rs752804472
REM1 ; LINC00028
1 20 31484309 missense variant G/A;T snv 5.7E-06; 5.7E-06 0.010 1.000 1 2016 2016
dbSNP: rs774005786
rs774005786
PARK7
8 0.790 0.080 1 7970951 missense variant G/A;T snv 3.9E-04; 2.0E-05 0.010 1.000 1 2008 2008
dbSNP: rs774457232
rs774457232
EIF4G1
3 0.925 0.080 3 184331303 missense variant G/A;T snv 6.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs781652026
rs781652026
TWNK
1 10 100989789 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs2942168
rs2942168
LINC02210 ; LINC02210-CRHR1
4 0.925 0.120 17 45637484 non coding transcript exon variant G/A;C;T snv 0.14 0.010 1.000 1 2014 2014
dbSNP: rs367543041
rs367543041
TARDBP
15 0.742 0.200 1 11022553 missense variant G/A;C snv 3.0E-05 0.010 1.000 1 2013 2013
dbSNP: rs542171324
rs542171324
SNCA
6 0.851 0.160 4 89828148 missense variant G/A;C snv 8.0E-06; 4.0E-06 0.010 1.000 1 2017 2017