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: rs2268666
rs2268666
1 1.000 0.040 6 146424952 intron variant C/T snv 0.51 0.010 1.000 1 2012 2012
dbSNP: rs772335034
rs772335034
1 1.000 0.040 12 132618851 missense variant C/A snv 9.6E-06 0.010 1.000 1 2009 2009
dbSNP: rs10233018
rs10233018
2 0.925 0.040 7 117883655 non coding transcript exon variant A/G snv 0.53 0.700 1.000 1 2016 2016
dbSNP: rs10485715
rs10485715
2 0.925 0.040 20 7279278 intergenic variant T/C snv 5.5E-02 0.700 1.000 1 2016 2016
dbSNP: rs10809520
rs10809520
2 0.925 0.040 9 11557797 intergenic variant C/T snv 0.28 0.700 1.000 1 2016 2016
dbSNP: rs10884216
rs10884216
2 0.925 0.040 10 105701367 intergenic variant T/C snv 0.17 0.700 1.000 1 2016 2016
dbSNP: rs116609693
rs116609693
2 0.925 0.040 9 92811394 intron variant C/T snv 6.1E-02 0.700 1.000 1 2018 2018
dbSNP: rs1352618632
rs1352618632
2 0.925 0.040 13 33112802 missense variant T/C snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1690818
rs1690818
2 0.925 0.040 11 99625823 intron variant C/T snv 0.61 0.700 1.000 1 2016 2016
dbSNP: rs17156280
rs17156280
2 0.925 0.040 7 82414674 intron variant T/C snv 3.4E-02 0.700 1.000 1 2016 2016
dbSNP: rs195478
rs195478
2 0.925 0.040 6 115851928 intergenic variant C/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs1961982
rs1961982
2 0.925 0.040 12 103218955 intergenic variant G/A snv 0.27 0.700 1.000 1 2016 2016
dbSNP: rs2017122
rs2017122
2 0.925 0.040 11 118444134 intron variant C/T snv 4.0E-02 0.700 1.000 1 2016 2016
dbSNP: rs2221540
rs2221540
2 0.925 0.040 11 132846474 intron variant A/G snv 0.11 0.700 1.000 1 2018 2018
dbSNP: rs2551941
rs2551941
2 0.925 0.040 2 207627419 upstream gene variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs319924
rs319924
PHF3 ; EYS
2 0.925 0.040 6 63777354 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs3825882
rs3825882
2 0.925 0.040 15 88126151 intron variant G/C;T snv 0.010 1.000 1 2008 2008
dbSNP: rs4685959
rs4685959
2 0.925 0.040 3 5645577 regulatory region variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs4810896
rs4810896
2 0.925 0.040 20 48918761 upstream gene variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs4887379
rs4887379
2 0.925 0.040 15 88184105 intron variant C/G snv 0.24 0.010 1.000 1 2008 2008
dbSNP: rs62100776
rs62100776
DCC
2 0.925 0.040 18 53228263 intron variant A/T snv 0.35 0.700 1.000 1 2016 2016
dbSNP: rs6320
rs6320
2 0.925 0.040 7 155070911 synonymous variant T/A;G snv 0.26; 1.2E-05 0.010 < 0.001 1 2014 2014
dbSNP: rs7343
rs7343
2 0.925 0.040 5 79799898 3 prime UTR variant G/A snv 0.13 0.010 1.000 1 2014 2014
dbSNP: rs75921243
rs75921243
2 0.925 0.040 8 9988356 intron variant T/G snv 1.9E-02 0.700 1.000 1 2018 2018
dbSNP: rs76767803
rs76767803
2 0.925 0.040 3 36230378 intergenic variant C/T snv 0.16 0.700 1.000 1 2018 2018