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: rs9517723
rs9517723
2 0.925 0.200 13 99432425 non coding transcript exon variant T/C snv 0.65 0.010 1.000 1 2017 2017
dbSNP: rs9517701
rs9517701
1 1.000 0.200 13 99377286 3 prime UTR variant A/G snv 0.13 0.010 1.000 1 2012 2012
dbSNP: rs7999348
rs7999348
1 1.000 0.200 13 99280668 intron variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs9517668
rs9517668
1 1.000 0.200 13 99271586 intron variant T/A snv 0.80 0.010 1.000 1 2012 2012
dbSNP: rs9513584
rs9513584
1 1.000 0.200 13 99224027 intron variant G/A snv 0.57 0.010 1.000 1 2012 2012
dbSNP: rs3825427
rs3825427
1 1.000 0.200 13 99196717 non coding transcript exon variant C/A snv 0.13 0.010 1.000 1 2012 2012
dbSNP: rs2848479
rs2848479
1 1.000 0.200 11 98216871 intergenic variant C/T snv 0.40 0.700 1.000 1 2016 2016
dbSNP: rs2061634
rs2061634
1 1.000 0.200 9 97343500 missense variant C/G snv 0.27 0.30 0.010 1.000 1 2009 2009
dbSNP: rs30187
rs30187
14 0.732 0.360 5 96788627 missense variant T/A;C snv 0.62 0.010 1.000 1 2018 2018
dbSNP: rs13154629
rs13154629
1 1.000 0.200 5 96786754 non coding transcript exon variant C/T snv 0.16 0.010 1.000 1 2015 2015
dbSNP: rs10050860
rs10050860
4 0.882 0.240 5 96786506 missense variant C/T snv 0.15 0.16 0.020 1.000 2 2015 2015
dbSNP: rs17482078
rs17482078
4 0.882 0.240 5 96783162 missense variant C/G;T snv 2.8E-05; 0.15 0.820 1.000 3 2013 2019
dbSNP: rs27044
rs27044
5 0.827 0.240 5 96783148 missense variant G/C snv 0.69 0.71 0.020 1.000 2 2019 2020
dbSNP: rs1065407
rs1065407
1 1.000 0.200 5 96776379 3 prime UTR variant T/A;G snv 3.3E-05; 0.26 0.010 1.000 1 2015 2015
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2014 2014
dbSNP: rs4857037
rs4857037
1 1.000 0.200 3 93908968 intron variant G/A snv 0.89 0.010 1.000 1 2016 2016
dbSNP: rs2489188
rs2489188
2 0.925 0.200 1 91866932 intron variant C/T snv 0.65 0.010 1.000 1 2012 2012
dbSNP: rs1805110
rs1805110
3 0.882 0.200 1 91861488 missense variant G/A snv 0.13 0.13 0.020 1.000 2 2012 2015
dbSNP: rs12212193
rs12212193
2 0.925 0.280 6 90287050 intron variant A/G snv 0.38 0.010 < 0.001 1 2015 2015
dbSNP: rs11755527
rs11755527
5 0.851 0.360 6 90248512 intron variant C/G snv 0.36 0.010 1.000 1 2015 2015
dbSNP: rs3757247
rs3757247
5 0.827 0.320 6 90247744 intron variant C/T snv 0.38 0.010 < 0.001 1 2015 2015
dbSNP: rs2474619
rs2474619
3 0.882 0.360 6 90170316 intron variant C/A snv 0.72 0.010 < 0.001 1 2015 2015
dbSNP: rs10094579
rs10094579
6 0.807 0.280 8 89837077 downstream gene variant C/A snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs1126772
rs1126772
5 0.851 0.320 4 87983034 3 prime UTR variant A/G snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs1128503
rs1128503
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.010 1.000 1 2012 2012