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: rs121909330
rs121909330
VCP
11 0.752 0.200 9 35065364 missense variant G/A;C;T snv 0.030 1.000 3 2005 2012
dbSNP: rs121909329
rs121909329
VCP
11 0.763 0.200 9 35065363 missense variant C/A;G;T snv 0.020 1.000 2 2008 2009
dbSNP: rs121909331
rs121909331
VCP
5 0.851 0.200 9 35064167 missense variant G/T snv 0.020 1.000 2 2009 2012
dbSNP: rs387906789
rs387906789
VCP
14 0.742 0.200 9 35065352 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs767379602
rs767379602
VCP
3 0.882 0.120 9 35060823 missense variant C/T snv 1.2E-05 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs387906709
rs387906709
UBQLN2
9 0.776 0.120 X 56565363 missense variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs387906711
rs387906711
UBQLN2
6 0.807 0.120 X 56565389 missense variant C/A;T snv 6.6E-06 0.010 1.000 1 2019 2019
dbSNP: rs75932628
rs75932628
TREM2 ; LOC105375056
28 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.040 1.000 4 2013 2016
dbSNP: rs3173615
rs3173615
TMEM106B
12 0.807 0.200 7 12229791 missense variant C/A;G snv 0.49 0.010 1.000 1 2013 2013
dbSNP: rs767076633
rs767076633
TBK1
2 0.925 0.120 12 64484311 missense variant T/C snv 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs80356715
rs80356715
TARDBP
6 0.807 0.120 1 11016874 missense variant C/G;T snv 8.0E-06; 2.2E-04 0.010 1.000 1 2012 2012
dbSNP: rs80356726
rs80356726
TARDBP
12 0.763 0.120 1 11022352 splice acceptor variant G/A snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1314736087
rs1314736087
SYBU
5 0.851 0.120 8 109575782 frameshift variant GA/- delins 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs74315452
rs74315452
SOD1
12 0.732 0.160 21 31667356 missense variant T/C snv 0.010 1.000 1 2012 2012
dbSNP: rs104893877
rs104893877
SNCA
59 0.614 0.360 4 89828149 missense variant C/T snv 0.010 < 0.001 1 2017 2017
dbSNP: rs1417373701
rs1417373701
SLCO6A1
2 0.925 0.120 5 102399606 missense variant G/A snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs773403329
rs773403329
SLCO6A1
2 0.925 0.120 5 102419925 missense variant A/G snv 4.1E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1401496725
rs1401496725
REG1A
2 0.925 0.120 2 79121657 missense variant C/G;T snv 8.0E-06; 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs544706237
rs544706237
REG1A
5 0.851 0.120 2 79121649 missense variant A/G;T snv 8.0E-06; 5.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs747105516
rs747105516
PSPH
5 0.851 0.120 7 56015139 missense variant T/C snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs964520949
rs964520949
PSPH
2 0.925 0.120 7 56019715 missense variant C/T snv 2.2E-04; 4.0E-06 1.9E-04 0.010 1.000 1 2013 2013
dbSNP: rs661
rs661
PSEN1
6 0.807 0.120 14 73217225 missense variant G/A;T snv 4.0E-06 0.700 1.000 17 1995 2017
dbSNP: rs63750053
rs63750053
PSEN1
5 0.827 0.120 14 73192721 missense variant G/T snv 0.700 1.000 9 1998 2017
dbSNP: rs63750082
rs63750082
PSEN1
13 0.732 0.120 14 73192712 missense variant G/C;T snv 8.0E-06 0.700 1.000 8 2001 2017
dbSNP: rs63750083
rs63750083
PSEN1
13 0.732 0.160 14 73219177 missense variant C/A;T snv 0.700 1.000 6 2006 2017