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: rs765508638
rs765508638
VGF
1 1.000 0.080 7 101164751 missense variant C/A;T snv 9.8E-05; 4.1E-06 0.020 1.000 2 2018 2018
dbSNP: rs1209222698
rs1209222698
CUX1
1 1.000 0.080 7 101916177 synonymous variant A/G snv 8.0E-06 0.050 1.000 5 2004 2015
dbSNP: rs2251644
rs2251644
DYNC1H1
1 1.000 0.080 14 102001510 intron variant A/G snv 0.17 0.21 0.010 < 0.001 1 2006 2006
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: rs115796194
rs115796194
IL1R1
1 1.000 0.080 2 102171877 synonymous variant A/G snv 1.1E-03 5.4E-03 0.010 1.000 1 2002 2002
dbSNP: rs745805222
rs745805222
IGF1
7 0.790 0.120 12 102475722 synonymous variant C/T snv 1.2E-05 4.9E-05 0.100 1.000 11 2007 2018
dbSNP: rs748991134
rs748991134
SLK ; LOC102724351
1 1.000 0.080 10 103967838 synonymous variant A/G snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs536110507
rs536110507
CARD16
1 1.000 0.080 11 105044573 missense variant C/G;T snv 7.0E-06 0.030 1.000 3 2003 2008
dbSNP: rs752612830
rs752612830
ATG5
1 1.000 0.080 6 106316116 synonymous variant T/C snv 8.0E-06 4.9E-05 0.020 1.000 2 2003 2005
dbSNP: rs1288358431
rs1288358431
TMEM119
1 1.000 0.080 12 108592291 synonymous variant C/T snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1157289563
rs1157289563
ELP1
2 0.925 0.120 9 108881749 missense variant C/T snv 0.010 1.000 1 2005 2005
dbSNP: rs139166976
rs139166976
DAO
1 1.000 0.080 12 108894350 missense variant C/A;G;T snv 4.0E-06; 8.0E-06; 2.6E-04 0.010 1.000 1 2015 2015
dbSNP: rs80356715
rs80356715
TARDBP
6 0.807 0.120 1 11016874 missense variant C/G;T snv 8.0E-06; 2.2E-04 0.040 0.500 4 2008 2017
dbSNP: rs80356717
rs80356717
TARDBP
5 0.851 0.120 1 11018836 missense variant A/G snv 0.020 1.000 2 2015 2018
dbSNP: rs267607102
rs267607102
TARDBP
5 0.851 0.120 1 11022196 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs80356718
rs80356718
TARDBP
5 0.827 0.120 1 11022209 missense variant A/G snv 7.6E-05 4.9E-05 0.010 1.000 1 2013 2013
dbSNP: rs80356719
rs80356719
TARDBP
3 0.882 0.080 1 11022268 missense variant G/A;C snv 1.6E-05 0.010 1.000 1 2013 2013
dbSNP: rs121908395
rs121908395
TARDBP
2 0.925 0.080 1 11022278 missense variant G/C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs80356721
rs80356721
TARDBP
2 0.925 0.080 1 11022290 missense variant G/A;C;T snv 4.0E-06; 1.2E-05 0.020 1.000 2 2009 2012
dbSNP: rs4884357
rs4884357
TARDBP
6 0.807 0.120 1 11022301 missense variant G/A;T snv 4.0E-06 0.020 1.000 2 2018 2018
dbSNP: rs80356726
rs80356726
TARDBP
12 0.763 0.120 1 11022352 splice acceptor variant G/A snv 4.0E-06 0.100 1.000 14 2011 2019
dbSNP: rs80356727
rs80356727
TARDBP
3 0.925 0.080 1 11022400 missense variant C/A snv 0.040 1.000 4 2013 2019
dbSNP: rs80356730
rs80356730
TARDBP
7 0.807 0.120 1 11022418 missense variant A/G snv 8.0E-06 0.060 1.000 6 2013 2019
dbSNP: rs80356732
rs80356732
TARDBP
2 0.925 0.080 1 11022444 missense variant C/A snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs80356733
rs80356733
TARDBP
7 0.790 0.200 1 11022451 missense variant G/T snv 0.070 1.000 7 2008 2019