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: rs1555454508
rs1555454508
SPG11
18 0.790 0.240 15 44615487 stop gained GTA/ATC mnv 0.700 0
dbSNP: rs1012053
rs1012053
DGKH
1 1.000 0.040 13 42079301 intron variant C/A snv 0.85 0.800 1.000 1 2008 2008
dbSNP: rs10134944
rs10134944
SLC35F4
1 1.000 0.040 14 57652478 intron variant C/T snv 0.13 0.800 1.000 1 2011 2011
dbSNP: rs1039002
rs1039002
PDE10A
5 0.851 0.080 6 165741969 intron variant G/A;T snv 0.800 1.000 1 2011 2011
dbSNP: rs1042779
rs1042779
ITIH1
4 0.882 0.040 3 52786995 missense variant A/G snv 0.40 0.42 0.800 1.000 1 2009 2009
dbSNP: rs10994415
rs10994415
ANK3
1 1.000 0.040 10 60562276 intron variant T/C snv 8.7E-02 0.800 1.000 1 2014 2014
dbSNP: rs1125777
rs1125777
NFIA
1 1.000 0.040 1 61366218 intron variant C/T snv 0.42 0.800 1.000 1 2013 2013
dbSNP: rs12202969
rs12202969 		1 1.000 0.040 6 98128347 intron variant G/A snv 0.39 0.800 1.000 1 2014 2014
dbSNP: rs12290811
rs12290811
TENM4
3 0.882 0.120 11 79372576 intron variant T/A snv 0.18 0.800 1.000 1 2014 2014
dbSNP: rs12563333
rs12563333
LINC02779
1 1.000 0.040 1 220484892 downstream gene variant C/T snv 3.7E-02 0.800 1.000 1 2011 2011
dbSNP: rs12568010
rs12568010
NFIA
1 1.000 0.040 1 61366266 intron variant A/G snv 9.8E-02 0.800 1.000 1 2013 2013
dbSNP: rs12938916
rs12938916 		1 1.000 0.040 17 57788926 intron variant G/A snv 5.4E-02 0.800 1.000 1 2011 2011
dbSNP: rs17018311
rs17018311
INTS7
2 1.000 0.040 1 211981666 intron variant T/C snv 2.7E-02 0.800 1.000 1 2012 2012
dbSNP: rs17040430
rs17040430 		1 1.000 0.040 12 108349043 regulatory region variant G/T snv 5.9E-02 0.800 1.000 1 2012 2012
dbSNP: rs17121983
rs17121983
NFIA
1 1.000 0.040 1 61354400 intron variant C/G;T snv 0.800 1.000 1 2013 2013
dbSNP: rs17418283
rs17418283
MCTP1
1 1.000 0.040 5 94818883 intron variant T/C snv 0.20 0.800 1.000 1 2009 2009
dbSNP: rs17826816
rs17826816
ADCY2
2 1.000 0.040 5 7519185 intron variant A/G snv 0.17 0.800 1.000 1 2014 2014
dbSNP: rs1985671
rs1985671
FBLN1
2 1.000 0.040 22 45566024 intron variant G/T snv 0.65 0.800 1.000 1 2012 2012
dbSNP: rs2011503
rs2011503
MAU2
1 1.000 0.040 19 19333177 intron variant T/C;G snv 0.800 1.000 1 2014 2014
dbSNP: rs2070615
rs2070615
CACNB3
1 1.000 0.040 12 48824388 intron variant A/C;G snv 4.7E-06; 0.58 0.800 1.000 1 2011 2011
dbSNP: rs2242663
rs2242663
CTSF
1 1.000 0.040 11 66567837 intron variant T/C snv 0.23 0.800 1.000 1 2009 2009
dbSNP: rs2271893
rs2271893
LMAN2L
3 0.925 0.040 2 96739703 intron variant G/A snv 0.23 0.800 1.000 1 2013 2013
dbSNP: rs2709736
rs2709736 		1 1.000 0.040 7 20822683 upstream gene variant C/T snv 0.51 0.800 1.000 1 2011 2011
dbSNP: rs2727943
rs2727943 		2 0.925 0.080 3 1856289 intergenic variant T/A;C snv 0.800 1.000 1 2011 2011
dbSNP: rs3761218
rs3761218
CDC25B
1 1.000 0.040 20 3795528 intron variant C/T snv 0.65 0.800 1.000 1 2011 2011