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: rs1002076
rs1002076
2 0.925 0.120 1 10378834 3 prime UTR variant G/A snv 0.33 0.010 < 0.001 1 2015 2015
dbSNP: rs10788679
rs10788679
2 0.925 0.120 1 17590467 intron variant A/G snv 0.59 0.010 1.000 1 2018 2018
dbSNP: rs12039431
rs12039431
1 1.000 0.120 1 37616450 intron variant G/A snv 0.24 0.21 0.700 1.000 1 2015 2015
dbSNP: rs1614627
rs1614627
1 1.000 0.120 1 20620263 downstream gene variant A/C snv 0.86 0.700 1.000 1 2018 2018
dbSNP: rs17130142
rs17130142
1 1.000 0.120 1 87773925 intron variant G/A snv 6.5E-02 0.700 1.000 1 2018 2018
dbSNP: rs17401966
rs17401966
7 0.790 0.280 1 10325413 intron variant A/G snv 0.24 0.010 1.000 1 2015 2015
dbSNP: rs2256787
rs2256787
2 0.925 0.120 1 17566321 intron variant A/C snv 0.93 0.010 1.000 1 2018 2018
dbSNP: rs3820282
rs3820282
2 0.925 0.120 1 22141722 intron variant C/T snv 0.13 0.700 1.000 1 2015 2015
dbSNP: rs56318008
rs56318008
3 0.925 0.120 1 22143914 5 prime UTR variant C/T snv 0.13 0.010 1.000 1 2018 2018
dbSNP: rs768623239
rs768623239
26 0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05 0.010 1.000 1 2016 2016
dbSNP: rs851797
rs851797
13 0.752 0.240 1 241889740 3 prime UTR variant A/G snv 0.72 0.010 1.000 1 2017 2017
dbSNP: rs1983383
rs1983383
2 0.925 0.120 2 30754766 intron variant C/A snv 0.39 0.010 1.000 1 2015 2015
dbSNP: rs2072590
rs2072590
4 0.851 0.120 2 176177905 non coding transcript exon variant A/C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs2303428
rs2303428
9 0.776 0.240 2 47476361 splice region variant T/A;C;G snv 4.0E-06; 0.12 0.010 1.000 1 2019 2019
dbSNP: rs3769827
rs3769827
2 0.925 0.120 2 201237962 intron variant A/G snv 0.42 0.010 1.000 1 2011 2011
dbSNP: rs3783553
rs3783553
26 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 0.010 1.000 1 2014 2014
dbSNP: rs3834129
rs3834129
38 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 0.010 1.000 1 2011 2011
dbSNP: rs6165
rs6165
14 0.724 0.160 2 48963902 missense variant C/G;T snv 4.0E-06; 0.55 0.010 1.000 1 2009 2009
dbSNP: rs6704688
rs6704688
3 0.882 0.160 2 201241309 non coding transcript exon variant C/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs74917072
rs74917072
3 0.882 0.120 2 238022053 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs7572644
rs7572644
2 0.925 0.120 2 28097166 intron variant T/C snv 0.21 0.010 1.000 1 2019 2019
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2011 2011
dbSNP: rs1057156
rs1057156
2 0.925 0.120 3 128081228 3 prime UTR variant A/G snv 0.22 0.23 0.010 1.000 1 2019 2019
dbSNP: rs149652370
rs149652370
2 0.925 0.120 3 128084115 non coding transcript exon variant A/G snv 1.3E-04 0.010 1.000 1 2019 2019
dbSNP: rs1574560
rs1574560
1 1.000 0.120 3 166329716 intergenic variant T/C snv 0.42 0.700 1.000 1 2018 2018