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: rs339501
rs339501
2 0.925 0.040 5 44365531 intron variant C/T snv 0.94 0.030 1.000 3 2013 2019
dbSNP: rs3759223
rs3759223
LUM
2 0.925 0.040 12 91113006 upstream gene variant A/G snv 2.7E-02 0.030 0.667 3 2009 2014
dbSNP: rs644242
rs644242
3 0.882 0.040 11 31791253 non coding transcript exon variant C/A;G snv 0.030 1.000 3 2011 2018
dbSNP: rs662702
rs662702
3 0.882 0.040 11 31787522 3 prime UTR variant C/T snv 0.15 0.030 1.000 3 2011 2019
dbSNP: rs10034228
rs10034228
3 0.882 0.040 4 111690594 intergenic variant T/C snv 0.32 0.020 1.000 2 2012 2019
dbSNP: rs10453441
rs10453441
3 1.000 0.040 22 45967859 intron variant A/G snv 0.40 0.020 1.000 2 2015 2018
dbSNP: rs1064795104
rs1064795104
17 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014
dbSNP: rs13382811
rs13382811
4 0.882 0.040 2 144466053 intron variant C/T snv 0.21 0.020 0.500 2 2017 2019
dbSNP: rs524952
rs524952
6 0.827 0.040 15 34713685 intergenic variant T/A snv 0.50 0.710 1.000 2 2016 2019
dbSNP: rs577948
rs577948
3 0.882 0.040 11 122159482 intron variant A/G snv 0.33 0.020 < 0.001 2 2011 2014
dbSNP: rs6214
rs6214
26 0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45 0.020 1.000 2 2011 2016
dbSNP: rs634990
rs634990
6 0.827 0.040 15 34713872 intergenic variant T/C snv 0.48 0.020 1.000 2 2012 2018
dbSNP: rs6885224
rs6885224
3 0.882 0.040 5 11169833 intron variant C/A;T snv 0.020 1.000 2 2011 2014
dbSNP: rs7744813
rs7744813
3 0.925 0.040 6 72933566 intron variant C/A snv 0.66 0.710 1.000 2 2016 2017
dbSNP: rs9318086
rs9318086
3 0.882 0.040 13 23858328 intron variant A/G snv 0.55 0.020 1.000 2 2019 2019
dbSNP: rs10033900
rs10033900
CFI
7 0.807 0.040 4 109737911 intron variant T/C snv 0.54 0.010 1.000 1 2012 2012
dbSNP: rs10089517
rs10089517
2 0.925 0.040 8 59266162 intergenic variant C/A snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs10113215
rs10113215
1 1.000 0.040 8 59219635 intergenic variant A/G snv 0.33 0.700 1.000 1 2014 2014
dbSNP: rs10462070
rs10462070
1 1.000 0.040 5 44305647 intron variant A/G snv 1.2E-02 0.010 1.000 1 2013 2013
dbSNP: rs104894910
rs104894910
NYX
3 0.882 0.080 X 41473734 missense variant G/C snv 0.010 1.000 1 2006 2006
dbSNP: rs10500355
rs10500355
3 0.925 0.040 16 7409346 intron variant T/A snv 0.29 0.700 1.000 1 2016 2016
dbSNP: rs10511652
rs10511652
1 1.000 0.040 9 18362867 intron variant A/G snv 0.54 0.700 1.000 1 2016 2016
dbSNP: rs10512441
rs10512441
1 1.000 0.040 17 32912627 regulatory region variant C/T snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs10824518
rs10824518
3 0.882 0.040 10 77303784 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs10860860
rs10860860
2 0.925 0.040 12 102387055 non coding transcript exon variant A/T snv 0.28 0.010 1.000 1 2011 2011