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: rs1057518882
rs1057518882
CYTB ; ND5 ; ND6
2 MT 14598 missense variant T/C snv 0.700 0
dbSNP: rs1555507479
rs1555507479
GNAO1
12 0.807 0.160 16 56336799 missense variant C/A snv 0.700 0
dbSNP: rs2230288
rs2230288
GBA
18 0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 0.700 0
dbSNP: rs756677845
rs756677845
PINK1
1 1 20638074 frameshift variant G/- del 0.700 0
dbSNP: rs121917763
rs121917763
TH
5 0.925 0.040 11 2167896 missense variant A/G snv 1.2E-05 7.0E-06 0.030 1.000 3 1996 1999
dbSNP: rs368134308
rs368134308
PRKN
4 0.882 0.040 6 162443356 missense variant C/A;G;T snv 3.2E-05; 2.6E-04 0.010 1.000 1 2001 2001
dbSNP: rs63750416
rs63750416
MAPT
7 0.851 0.120 17 46010373 missense variant A/C snv 0.010 1.000 1 2001 2001
dbSNP: rs63750444
rs63750444
PSEN1
4 0.882 0.080 14 73192745 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs63750680
rs63750680
PSEN1
2 1.000 0.080 14 73198076 missense variant T/C snv 0.010 1.000 1 2004 2004
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: rs104893875
rs104893875
SNCA
13 0.742 0.120 4 89828170 missense variant C/T snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs104894685
rs104894685
FTL
4 0.925 0.120 19 48966317 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs758414077
rs758414077
FTL
1 19 48966681 synonymous variant G/A snv 8.0E-06 2.8E-05 0.010 1.000 1 2005 2005
dbSNP: rs63751438
rs63751438
MAPT
16 0.776 0.120 17 46010388 missense variant C/T snv 0.020 1.000 2 2003 2007
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: rs34778348
rs34778348
LRRK2 ; LOC105369736
15 0.742 0.120 12 40363526 missense variant G/A snv 1.7E-03 5.8E-04 0.010 1.000 1 2007 2007
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: rs781652026
rs781652026
TWNK
1 10 100989789 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs74315356
rs74315356
PINK1 ; PINK1-AS
3 0.925 0.040 1 20649054 stop gained G/A snv 4.0E-06 1.4E-05 0.030 1.000 3 2006 2008
dbSNP: rs113994097
rs113994097
POLG
22 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 0.010 1.000 1 2008 2008
dbSNP: rs1417802320
rs1417802320
PARK7
1 1 7962861 missense variant A/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs45467995
rs45467995
PINK1 ; PINK1-AS
1 1 20649062 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs45539432
rs45539432
PINK1 ; PINK1-AS
5 0.851 0.040 1 20649109 stop gained C/T snv 4.0E-05 3.5E-05 0.010 1.000 1 2008 2008
dbSNP: rs74315414
rs74315414
PRNP
5 0.882 0.200 20 4699533 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2008 2008
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