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: rs6494696
rs6494696 		1 1.000 0.080 15 67810868 downstream gene variant G/A;C snv 0.710 1.000 2 2007 2017
dbSNP: rs10208712
rs10208712 		1 1.000 0.080 2 3986856 regulatory region variant A/G snv 0.26 0.700 1.000 1 2017 2017
dbSNP: rs111652004
rs111652004 		1 1.000 0.080 15 47068169 intergenic variant G/T snv 8.6E-02 0.700 1.000 1 2017 2017
dbSNP: rs12046503
rs12046503 		1 1.000 0.080 1 106652717 intergenic variant T/C snv 0.32 0.700 1.000 1 2017 2017
dbSNP: rs1820989
rs1820989 		1 1.000 0.080 2 67842758 intergenic variant A/C;G 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: rs1983167
rs1983167 		1 1.000 0.080 X 42989135 regulatory region variant T/C snv 0.700 1.000 1 2007 2007
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: rs6747972
rs6747972 		1 1.000 0.080 2 67843093 intergenic variant A/G snv 0.65 0.810 1.000 1 2011 2011
dbSNP: rs7881785
rs7881785 		1 1.000 0.080 X 42995357 upstream gene variant A/G snv 0.700 1.000 1 2007 2007
dbSNP: rs996064
rs996064 		1 1.000 0.080 15 35916797 upstream gene variant A/T snv 3.7E-02 0.700 1.000 1 2017 2017
dbSNP: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.010 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: rs9357271
rs9357271
BTBD9
8 0.776 0.160 6 38398097 intron variant T/C snv 0.38 0.880 1.000 11 2007 2019
dbSNP: rs3923809
rs3923809
BTBD9
1 1.000 0.080 6 38473194 intron variant A/G snv 0.32 0.820 1.000 4 2007 2017
dbSNP: rs9296249
rs9296249
BTBD9
3 0.882 0.120 6 38398065 intron variant T/C snv 0.30 0.820 1.000 3 2007 2017
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: 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: 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: rs6904723
rs6904723
BTBD9
1 1.000 0.080 6 38468541 intron variant A/C;T snv 0.700 1.000 1 2007 2007
dbSNP: rs6923737
rs6923737
BTBD9
1 1.000 0.080 6 38515788 intron variant T/C snv 0.28 0.700 1.000 1 2007 2007
dbSNP: rs3104767
rs3104767
CASC16
2 0.925 0.080 16 52590826 intron variant G/T snv 0.49 0.840 1.000 4 2011 2020
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: rs80319144
rs80319144
CCDC148
1 1.000 0.080 2 158343323 intron variant C/T snv 0.18 0.700 1.000 1 2017 2017
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