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: rs12154141
rs12154141
1 6 62460168 downstream gene variant A/C snv 0.20 0.700 1.000 1 2017 2017
dbSNP: rs138117677
rs138117677
1 16 3348899 TF binding site variant GGGACT/- delins 2.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs200688486
rs200688486
1 6 32621223 regulatory region variant -/T delins 0.700 1.000 1 2013 2013
dbSNP: rs204999
rs204999
13 0.763 0.480 6 32142202 intergenic variant A/G snv 0.28 0.700 1.000 1 2013 2013
dbSNP: rs2153486
rs2153486
1 14 87737048 intron variant C/T snv 0.68 0.700 1.000 1 2017 2017
dbSNP: rs2227139
rs2227139
4 0.925 0.160 6 32445682 downstream gene variant G/A snv 0.61 0.700 1.000 1 2013 2013
dbSNP: rs314879
rs314879
1 13 22735243 intergenic variant C/T snv 0.78 0.700 1.000 1 2017 2017
dbSNP: rs5861895
rs5861895
1 4 129344228 regulatory region variant TT/-;T;TTT delins 0.700 1.000 1 2017 2017
dbSNP: rs62309385
rs62309385
1 4 136134743 intron variant G/C snv 9.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs6797827
rs6797827
1 3 109735523 intron variant C/T snv 0.18 0.700 1.000 1 2017 2017
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: rs7754768
rs7754768
2 1.000 0.040 6 32452402 regulatory region variant C/T snv 0.56 0.700 1.000 1 2013 2013
dbSNP: rs9271488
rs9271488
1 6 32621223 regulatory region variant G/T snv 0.27 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: rs3117583
rs3117583
3 0.925 0.200 6 31651799 5 prime UTR variant A/G snv 0.14 0.17 0.700 1.000 1 2013 2013
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: rs10947262
rs10947262
3 0.925 0.040 6 32405535 non coding transcript exon variant C/T snv 0.12 0.700 1.000 1 2013 2013
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: rs2294884
rs2294884
1 6 32399482 intron variant T/A;G snv 0.18 0.700 1.000 1 2013 2013
dbSNP: rs28362680
rs28362680
1 6 32403039 missense variant G/A snv 0.14 0.12 0.700 1.000 1 2013 2013
dbSNP: rs28362683
rs28362683
2 1.000 0.040 6 32405186 synonymous variant G/A snv 0.12 0.10 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: rs3130618
rs3130618
7 0.827 0.360 6 31664357 missense variant C/A;T snv 0.15; 4.0E-06 0.700 1.000 1 2013 2013