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: rs1042151
rs1042151
1 0.925 0.240 6 33080884 missense variant A/G snv 0.18 0.25 0.010 1.000 1 2013 2013
dbSNP: rs1062196
rs1062196
1 1.000 0.240 3 98798169 3 prime UTR variant T/C snv 0.44 0.010 1.000 1 2012 2012
dbSNP: rs10780946
rs10780946
1 1.000 0.240 9 70548684 intron variant T/C snv 0.48 0.010 1.000 1 2016 2016
dbSNP: rs1150740
rs1150740
1 1.000 0.240 6 30062912 intron variant C/A snv 8.3E-02 0.010 1.000 1 2012 2012
dbSNP: rs1188729
rs1188729
1 1.000 0.240 1 228317967 missense variant C/A;G;T snv 4.0E-06; 0.69; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1264307
rs1264307
1 1.000 0.240 6 30912980 intron variant G/A snv 0.28 0.010 1.000 1 2012 2012
dbSNP: rs13301
rs13301
1 1.000 0.240 19 15114537 3 prime UTR variant T/C snv 0.71 0.010 1.000 1 2017 2017
dbSNP: rs1371687
rs1371687
1 1.000 0.240 3 98886146 intron variant A/G snv 0.31 0.010 1.000 1 2012 2012
dbSNP: rs2074261
rs2074261
1 1.000 0.240 19 15115800 non coding transcript exon variant C/A snv 0.66 0.70 0.010 1.000 1 2017 2017
dbSNP: rs2517449
rs2517449
1 1.000 0.240 6 30951924 synonymous variant T/C snv 0.32 0.28 0.010 < 0.001 1 2012 2012
dbSNP: rs3816491
rs3816491
1 1.000 0.240 2 69821402 intron variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs386699871
rs386699871
1 1.000 0.240 6 33080884 missense variant ATG/GTA mnv 0.010 1.000 1 2013 2013
dbSNP: rs573790
rs573790
1 1.000 0.240 11 60087912 upstream gene variant T/C snv 0.56 0.010 1.000 1 2018 2018
dbSNP: rs7025694
rs7025694
1 1.000 0.240 9 70550347 intron variant T/C snv 0.48 0.010 < 0.001 1 2016 2016
dbSNP: rs7615856
rs7615856
1 1.000 0.240 3 98869133 intron variant C/T snv 0.36 0.010 1.000 1 2012 2012
dbSNP: rs828621
rs828621
1 1.000 0.240 3 98824818 intron variant T/A snv 0.35 0.010 1.000 1 2012 2012
dbSNP: rs870830
rs870830
1 1.000 0.240 17 39912120 intron variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs8833
rs8833
1 1.000 0.240 3 98796725 3 prime UTR variant C/T snv 0.30 0.010 1.000 1 2012 2012
dbSNP: rs1059288
rs1059288
2 0.882 0.320 6 33299895 3 prime UTR variant A/G snv 0.60 0.010 1.000 1 2013 2013
dbSNP: rs1188722
rs1188722
2 0.925 0.240 1 228276575 missense variant T/C snv 0.68 0.70 0.010 1.000 1 2012 2012
dbSNP: rs16840208
rs16840208
2 0.925 0.240 3 98799533 missense variant C/T snv 2.1E-02 1.2E-02 0.010 1.000 1 2012 2012
dbSNP: rs17048175
rs17048175
2 0.925 0.240 2 114156886 intergenic variant T/C snv 0.19 0.010 1.000 1 2015 2015
dbSNP: rs2071888
rs2071888
2 0.882 0.320 6 33305078 missense variant G/C snv 0.56 0.60 0.010 1.000 1 2013 2013
dbSNP: rs4647376
rs4647376
2 0.925 0.400 9 95297574 intron variant T/G snv 0.72 0.010 1.000 1 2012 2012
dbSNP: rs1264320
rs1264320
3 0.882 0.400 6 30893223 intron variant C/T snv 0.32 0.28 0.010 1.000 1 2012 2012