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: rs10799701
rs10799701
2 1 21494497 intergenic variant A/G snv 0.47 0.700 1.000 1 2011 2011
dbSNP: rs12753193
rs12753193
3 1 65703996 non coding transcript exon variant G/A snv 0.58 0.700 1.000 1 2009 2009
dbSNP: rs211718
rs211718
3 1 75640990 downstream gene variant T/C snv 0.75 0.700 1.000 1 2011 2011
dbSNP: rs2794520
rs2794520
9 0.807 0.240 1 159709026 upstream gene variant C/A;T snv 0.700 1.000 1 2009 2009
dbSNP: rs477992
rs477992
4 1 119714953 intron variant A/G snv 0.69 0.700 1.000 1 2011 2011
dbSNP: rs61824877
rs61824877
3 1 200273504 intron variant G/A snv 0.11 0.700 1.000 1 2018 2018
dbSNP: rs629301
rs629301
22 0.851 0.120 1 109275684 3 prime UTR variant G/T snv 0.74 0.700 1.000 1 2016 2016
dbSNP: rs9332998
rs9332998
2 1 46938514 intron variant T/C snv 0.16 0.700 1.000 1 2011 2011
dbSNP: rs9943291
rs9943291
3 1 119749667 intron variant T/G snv 8.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs780094
rs780094
62 0.658 0.400 2 27518370 intron variant T/C snv 0.67 0.800 1.000 3 2011 2018
dbSNP: rs1260326
rs1260326
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.800 1.000 2 2009 2018
dbSNP: rs12053049
rs12053049
2 2 168910638 intron variant T/C snv 5.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs12712928
rs12712928
2 2 44964941 intron variant G/C snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs13391552
rs13391552
2 2 73591809 intron variant G/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs1349497
rs1349497
2 2 172727935 intron variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs1728918
rs1728918
19 0.827 0.160 2 27412596 upstream gene variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs2216405
rs2216405
2 2 210752170 intergenic variant A/G snv 0.15 0.700 1.000 1 2011 2011
dbSNP: rs222826
rs222826
16 0.851 0.120 2 146120964 regulatory region variant T/C snv 0.94 0.700 1.000 1 2016 2016
dbSNP: rs2232326
rs2232326
3 2 168907981 missense variant T/C snv 5.1E-03 3.3E-03 0.700 1.000 1 2018 2018
dbSNP: rs478442
rs478442
18 0.851 0.120 2 21176344 intergenic variant G/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs560887
rs560887
18 0.827 0.120 2 168906638 intron variant T/C snv 0.79 0.80 0.800 1.000 1 2009 2009
dbSNP: rs562338
rs562338
21 0.807 0.160 2 21065449 intergenic variant A/G snv 0.69 0.700 1.000 1 2016 2016
dbSNP: rs673548
rs673548
14 0.925 0.120 2 21014672 intron variant G/A;T snv 0.700 1.000 1 2009 2009
dbSNP: rs6759518
rs6759518
16 0.851 0.120 2 27263727 intron variant G/C snv 5.5E-02 0.700 1.000 1 2016 2016
dbSNP: rs887829
rs887829
18 0.763 0.280 2 233759924 intron variant C/T snv 0.36 0.700 1.000 1 2011 2011