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: rs2275294
rs2275294
ZNF512B
3 0.925 0.080 20 63962894 intron variant G/A snv 0.25 0.010 1.000 1 2015 2015
dbSNP: rs1265011107
rs1265011107
WDTC1
3 1.000 0.080 1 27283372 missense variant A/G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs121909329
rs121909329
VCP
11 0.763 0.200 9 35065363 missense variant C/A;G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs149215094
rs149215094
VAPB
2 1.000 0.080 20 58444203 missense variant G/A snv 5.6E-05 5.6E-05 0.010 1.000 1 2014 2014
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: rs5030732
rs5030732
UCHL1 ; UCHL1-AS1
10 0.790 0.160 4 41257616 missense variant C/A snv 0.24 0.16 0.010 1.000 1 2017 2017
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 2017 2017
dbSNP: rs28933979
rs28933979
TTR
70 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.030 1.000 3 2006 2016
dbSNP: rs75932628
rs75932628
TREM2 ; LOC105375056
28 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.070 0.857 7 2013 2020
dbSNP: rs3173615
rs3173615
TMEM106B
12 0.807 0.200 7 12229791 missense variant C/A;G snv 0.49 0.010 1.000 1 2018 2018
dbSNP: rs119467003
rs119467003
TDP1
4 0.882 0.080 14 89993420 missense variant A/G snv 2.1E-05 0.010 1.000 1 2007 2007
dbSNP: rs80356740
rs80356740
TARDBP
2 1.000 1 11022556 missense variant A/G snv 1.7E-05 0.010 1.000 1 2008 2008
dbSNP: rs398122403
rs398122403
SYNJ1
11 0.807 0.080 21 32695106 missense variant C/T snv 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs121912442
rs121912442
SOD1 ; LOC102724449
7 0.807 0.120 21 31659783 missense variant C/T snv 3.6E-05 0.010 1.000 1 2012 2012
dbSNP: rs121912438
rs121912438
SOD1
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.050 1.000 5 2010 2016
dbSNP: rs121912432
rs121912432
SOD1
3 0.925 0.080 21 31663832 missense variant C/G snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs121912443
rs121912443
SOD1
15 0.732 0.160 21 31663857 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs104893878
rs104893878
SNCA ; SNCA-AS1
21 0.732 0.160 4 89835580 missense variant C/G snv 0.020 1.000 2 2002 2003
dbSNP: rs104893877
rs104893877
SNCA
59 0.614 0.360 4 89828149 missense variant C/T snv 0.020 1.000 2 2002 2003
dbSNP: rs104893875
rs104893875
SNCA
13 0.742 0.120 4 89828170 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs3857059
rs3857059
SNCA
2 1.000 0.040 4 89754087 intron variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs431905511
rs431905511
SNCA
9 0.827 0.080 4 89828154 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs1428103360
rs1428103360
SMN2
2 1.000 0.040 5 70070732 missense variant A/G snv 0.010 1.000 1 2000 2000
dbSNP: rs104893922
rs104893922
SMN1 ; SMN2
3 0.925 0.080 5 70946157 missense variant A/G snv 0.010 1.000 1 2000 2000
dbSNP: rs407135
rs407135
SLC11A2
3 0.925 0.120 12 51017570 intron variant G/T snv 0.74 0.010 1.000 1 2011 2011