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: rs17636328
rs17636328
LINC02520
1 1.000 0.080 6 37522755 intron variant A/G snv 0.14 0.700 1.000 1 2017 2017
dbSNP: rs179945
rs179945
ATXN1
2 0.925 0.120 6 16396238 intron variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs1800652
rs1800652
FXN
1 1.000 0.080 9 69046200 intron variant G/A snv 0.24 0.010 < 0.001 1 2013 2013
dbSNP: rs1801260
rs1801260
CLOCK ; TMEM165
28 0.695 0.280 4 55435202 3 prime UTR variant A/G snv 0.25 0.010 1.000 1 2014 2014
dbSNP: rs1820989
rs1820989 		1 1.000 0.080 2 67842758 intergenic variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs1836229
rs1836229
PTPRD
1 1.000 0.080 9 8820573 intron variant A/C;G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1848460
rs1848460 		1 1.000 0.080 3 3406460 intron variant A/T snv 0.33 0.700 1.000 1 2017 2017
dbSNP: rs1918752
rs1918752
UTRN
1 1.000 0.080 6 144587941 intron variant A/T snv 0.22 0.010 1.000 1 2017 2017
dbSNP: rs1983167
rs1983167 		1 1.000 0.080 X 42989135 regulatory region variant T/C snv 0.700 1.000 1 2007 2007
dbSNP: rs2412646
rs2412646
CLOCK ; TMEM165
3 0.882 0.120 4 55452605 3 prime UTR variant T/C snv 0.58 0.010 1.000 1 2014 2014
dbSNP: rs340561
rs340561 		1 1.000 0.080 13 72274018 intergenic variant G/T snv 0.23 0.700 1.000 1 2017 2017
dbSNP: rs35041767
rs35041767
PTPRD
1 1.000 0.080 9 9261737 intron variant -/C ins 0.700 1.000 1 2008 2008
dbSNP: rs35987657
rs35987657
LOC105374107 ; LOC107986023
1 1.000 0.080 3 130816723 upstream gene variant A/G snv 0.29 0.700 1.000 1 2017 2017
dbSNP: rs365032
rs365032
MYT1
1 1.000 0.080 20 64164052 intron variant A/G snv 0.26 0.700 1.000 1 2017 2017
dbSNP: rs3794087
rs3794087
SLC1A2
6 0.851 0.120 11 35308068 intron variant G/T snv 0.20 0.010 < 0.001 1 2014 2014
dbSNP: rs3810651
rs3810651
GABRQ ; LOC105373370
4 0.925 0.080 X 152652814 missense variant A/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs41305272
rs41305272
MAP2K5
6 0.851 0.120 15 67807105 3 prime UTR variant C/T snv 2.4E-02 0.010 1.000 1 2014 2014
dbSNP: rs4236060
rs4236060
BTBD9
1 1.000 0.080 6 38502311 intron variant C/T snv 0.22 0.700 1.000 1 2007 2007
dbSNP: rs45544231
rs45544231
CASC16
1 1.000 0.080 16 52598818 intron variant G/C;T snv 0.700 1.000 1 2017 2017
dbSNP: rs4714156
rs4714156
BTBD9
2 0.925 0.120 6 38393336 intron variant C/T snv 0.36 0.700 1.000 1 2007 2007
dbSNP: rs4784226
rs4784226
TOX3
1 1.000 0.080 16 52549231 upstream gene variant C/T snv 0.20 0.010 1.000 1 2018 2018
dbSNP: rs61192259
rs61192259
BTBD9
1 1.000 0.080 6 38486186 intron variant C/A snv 0.50 0.700 1.000 1 2017 2017
dbSNP: rs62535767
rs62535767
PTPRD
1 1.000 0.080 9 9290311 intron variant C/T snv 0.25 0.700 1.000 1 2017 2017
dbSNP: rs6747972
rs6747972 		1 1.000 0.080 2 67843093 intergenic variant A/G snv 0.65 0.810 1.000 1 2011 2011
dbSNP: rs6904723
rs6904723
BTBD9
1 1.000 0.080 6 38468541 intron variant A/C;T snv 0.700 1.000 1 2007 2007