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: rs5861895
rs5861895
1 4 129344228 regulatory region variant TT/-;T;TTT delins 0.700 1.000 1 2017 2017
dbSNP: rs7192
rs7192
7 0.827 0.200 6 32443869 missense variant T/G snv 0.64 0.61 0.700 1.000 1 2013 2013
dbSNP: rs6901541
rs6901541
2 1.000 0.120 6 32474484 upstream gene variant T/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs116671518
rs116671518
1 4 107189709 intron variant T/C snv 1.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs2294881
rs2294881
3 1.000 0.040 6 32399827 intron variant T/C snv 0.19 0.700 1.000 1 2013 2013
dbSNP: rs2294882
rs2294882
2 6 32399738 intron variant T/C snv 0.19 0.700 1.000 1 2013 2013
dbSNP: rs2516049
rs2516049
12 0.742 0.400 6 32602623 intergenic variant T/C snv 0.27 0.700 1.000 1 2013 2013
dbSNP: rs3104369
rs3104369
1 6 32634705 intron variant T/C snv 0.71 0.700 1.000 1 2013 2013
dbSNP: rs3115663
rs3115663
7 0.827 0.360 6 31634066 non coding transcript exon variant T/C snv 0.17 0.700 1.000 1 2013 2013
dbSNP: rs3130048
rs3130048
3 1.000 0.120 6 31645962 intron variant T/C snv 0.23 0.700 1.000 1 2013 2013
dbSNP: rs3130628
rs3130628
2 1.000 0.120 6 31641495 non coding transcript exon variant T/C snv 0.15 0.18 0.700 1.000 1 2013 2013
dbSNP: rs4248166
rs4248166
2 1.000 0.040 6 32398644 intron variant T/C snv 0.18 0.700 1.000 1 2013 2013
dbSNP: rs9268832
rs9268832
4 0.882 0.160 6 32460012 non coding transcript exon variant T/C snv 0.61 0.59 0.700 1.000 1 2013 2013
dbSNP: rs9268853
rs9268853
10 0.790 0.440 6 32461866 intron variant T/C snv 0.29 0.700 1.000 1 2013 2013
dbSNP: rs9368726
rs9368726
1 6 32470765 intron variant T/C snv 0.29 0.700 1.000 1 2013 2013
dbSNP: rs2294884
rs2294884
1 6 32399482 intron variant T/A;G snv 0.18 0.700 1.000 1 2013 2013
dbSNP: rs4935356
rs4935356
2 1.000 0.080 6 32444611 intron variant T/A;G snv 0.700 1.000 1 2013 2013
dbSNP: rs12759054
rs12759054
3 1.000 0.040 1 233984064 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs2239804
rs2239804
5 0.851 0.240 6 32443746 intron variant T/A;C snv 0.51 0.700 1.000 1 2013 2013
dbSNP: rs138117677
rs138117677
1 16 3348899 TF binding site variant GGGACT/- delins 2.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs10947261
rs10947261
4 0.882 0.240 6 32405455 splice region variant G/T snv 0.11 0.700 1.000 1 2013 2013
dbSNP: rs2395182
rs2395182
5 0.851 0.280 6 32445540 downstream gene variant G/T snv 0.76 0.700 1.000 1 2013 2013
dbSNP: rs2395185
rs2395185
17 0.724 0.360 6 32465390 intron variant G/T snv 0.29 0.700 1.000 1 2013 2013
dbSNP: rs80274284
rs80274284
1 1 116037356 missense variant G/T snv 0.700 1.000 1 2017 2017
dbSNP: rs9271488
rs9271488
1 6 32621223 regulatory region variant G/T snv 0.27 0.700 1.000 1 2013 2013