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: rs2555639
rs2555639
7 0.851 0.080 4 174540379 non coding transcript exon variant T/C snv 0.38 0.020 1.000 2 2013 2020
dbSNP: rs12527379
rs12527379
1 1.000 0.080 6 131958700 intron variant G/A snv 0.31 0.010 < 0.001 1 2015 2015
dbSNP: rs1365611
rs1365611
2 0.925 0.080 4 174462542 intergenic variant C/T snv 0.28 0.010 1.000 1 2013 2013
dbSNP: rs16892766
rs16892766
18 0.716 0.240 8 116618444 intergenic variant A/C snv 9.3E-02 0.010 1.000 1 2013 2013
dbSNP: rs2332897
rs2332897
2 0.925 0.080 4 174465154 intergenic variant C/A;G snv 0.29 0.010 1.000 1 2013 2013
dbSNP: rs2770150
rs2770150
4 0.925 0.080 9 117700861 upstream gene variant A/G snv 0.22 0.010 < 0.001 1 2016 2016
dbSNP: rs2853668
rs2853668
5 0.882 0.080 5 1299910 upstream gene variant G/T snv 0.33 0.010 1.000 1 2013 2013
dbSNP: rs3093075
rs3093075
5 0.882 0.120 1 159710123 upstream gene variant G/T snv 0.13 0.010 1.000 1 2011 2011
dbSNP: rs4444235
rs4444235
23 0.701 0.240 14 53944201 downstream gene variant T/C snv 0.43 0.010 1.000 1 2013 2013
dbSNP: rs4779584
rs4779584
16 0.732 0.160 15 32702555 intergenic variant T/C snv 0.67 0.010 1.000 1 2013 2013
dbSNP: rs6844282
rs6844282
2 0.925 0.080 4 174460480 regulatory region variant C/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs6854845
rs6854845
6 0.827 0.080 4 74821455 intergenic variant G/T snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs719725
rs719725
7 0.827 0.080 9 6365683 intergenic variant A/C snv 0.34 0.010 1.000 1 2013 2013
dbSNP: rs961253
rs961253
15 0.732 0.240 20 6423634 intergenic variant C/A snv 0.34 0.010 1.000 1 2013 2013
dbSNP: rs997476
rs997476
3 0.882 0.080 4 102620848 downstream gene variant G/T snv 4.3E-02 0.010 1.000 1 2013 2013
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.040 0.500 4 2005 2009
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 < 0.001 1 2009 2009
dbSNP: rs41395947
rs41395947
2 0.925 0.080 16 16007895 missense variant G/C snv 2.0E-05 7.0E-06 0.010 < 0.001 1 2019 2019
dbSNP: rs41494447
rs41494447
2 0.925 0.080 16 16007985 missense variant C/T snv 4.4E-04 2.2E-04 0.010 1.000 1 2019 2019
dbSNP: rs8086
rs8086
2 0.925 0.080 4 184756267 3 prime UTR variant C/T snv 0.24 0.010 1.000 1 2016 2016
dbSNP: rs3811802
rs3811802
2 0.925 0.080 4 99323064 intron variant A/C;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs4147536
rs4147536
2 0.925 0.080 4 99317955 non coding transcript exon variant A/C snv 0.71 0.010 1.000 1 2018 2018
dbSNP: rs283415
rs283415
2 0.925 0.080 4 99349450 intron variant C/T snv 0.64 0.010 1.000 1 2018 2018
dbSNP: rs4147542
rs4147542
3 0.882 0.160 4 99347396 intron variant T/C snv 0.33 0.010 1.000 1 2018 2018
dbSNP: rs266729
rs266729
37 0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv 0.010 1.000 1 2011 2011