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: rs9901522
rs9901522 		1 1.000 0.080 17 14770617 intron variant C/T snv 0.13 0.700 1.000 1 2018 2018
dbSNP: rs989533582
rs989533582
FOXO1
1 1.000 0.080 13 40665935 missense variant G/A;C snv 0.010 1.000 1 2006 2006
dbSNP: rs987587846
rs987587846
RNF40 ; ZNF629
2 0.925 0.080 16 30784206 missense variant C/G snv 0.010 1.000 1 2018 2018
dbSNP: rs987539
rs987539
PON2
1 1.000 0.080 7 95407680 intron variant C/T snv 0.55 0.010 1.000 1 2008 2008
dbSNP: rs981951447
rs981951447
RASA1
2 0.925 0.120 5 87268726 missense variant C/T snv 0.010 < 0.001 1 2017 2017
dbSNP: rs957950902
rs957950902
CRYZ
1 1.000 0.080 1 74724729 synonymous variant C/T snv 4.1E-06 2.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs946135215
rs946135215
NEFH ; LOC107985541
1 1.000 0.080 22 29480368 missense variant G/A snv 0.010 1.000 1 1998 1998
dbSNP: rs945699
rs945699 		1 1.000 0.080 1 227905618 regulatory region variant A/G snv 0.41 0.700 1.000 1 2007 2007
dbSNP: rs941793
rs941793
DYNC1H1
1 1.000 0.080 14 102041124 non coding transcript exon variant A/G snv 0.36 0.010 < 0.001 1 2006 2006
dbSNP: rs938050921
rs938050921
DCDC2 ; KAAG1
5 0.827 0.120 6 24357658 missense variant C/T snv 8.1E-06 0.100 1.000 13 2006 2020
dbSNP: rs9357140
rs9357140
TSBP1 ; TSBP1-AS1
2 0.925 0.120 6 32333737 intron variant G/A snv 0.33 0.010 1.000 1 2018 2018
dbSNP: rs931528143
rs931528143
HIPK2
1 1.000 0.080 7 139716942 synonymous variant C/T snv 1.4E-05 0.010 1.000 1 2020 2020
dbSNP: rs9268856
rs9268856
HLA-DRB9
6 0.807 0.240 6 32461942 intron variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs921859872
rs921859872
DDR1
1 1.000 0.080 6 30895461 missense variant C/A;T snv 4.1E-06; 1.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs908656374
rs908656374
DDX19A
1 1.000 0.080 16 70361487 missense variant A/G snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs903603
rs903603
MOB3B ; LOC112268043
1 1.000 0.080 9 27529318 non coding transcript exon variant G/A snv 0.39 0.710 1.000 2 2010 2013
dbSNP: rs894982289
rs894982289
SIGMAR1
1 1.000 0.080 9 34637237 missense variant C/G snv 0.020 1.000 2 2014 2017
dbSNP: rs886041390
rs886041390
FUS
5 0.827 0.080 16 31191431 missense variant C/T snv 4.0E-06 0.100 1.000 10 2011 2019
dbSNP: rs886041389
rs886041389
FUS
2 0.925 0.080 16 31191429 missense variant G/C snv 0.010 1.000 1 2011 2011
dbSNP: rs876016
rs876016
P4HB
2 0.925 0.080 17 81852587 intron variant A/G snv 0.23 0.020 1.000 2 2013 2016
dbSNP: rs868856
rs868856
MOB3B
1 1.000 0.080 9 27489253 intron variant A/G snv 0.63 0.700 1.000 1 2010 2010
dbSNP: rs866976972
rs866976972
SETX
1 1.000 0.080 9 132334655 missense variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs855913
rs855913 		1 1.000 0.080 7 149506571 intergenic variant A/C snv 0.96 0.800 1.000 1 2009 2009
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.020 1.000 2 2009 2015
dbSNP: rs850713
rs850713
GRN
1 1.000 0.080 17 44350364 intron variant G/A;T snv 0.28; 4.0E-06 0.010 1.000 1 2008 2008