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: rs9405108
rs9405108
1 6 32470871 intron variant C/T snv 0.29 0.700 1.000 1 2013 2013
dbSNP: rs204995
rs204995
2 1.000 0.120 6 32186508 non coding transcript exon variant A/G snv 0.21 0.27 0.700 1.000 1 2013 2013
dbSNP: rs2213585
rs2213585
2 1.000 0.040 6 32445373 downstream gene variant G/A snv 0.61 0.700 1.000 1 2013 2013
dbSNP: rs2213586
rs2213586
2 1.000 0.040 6 32445317 downstream gene variant A/G snv 0.61 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: rs2736157
rs2736157
2 1.000 0.120 6 31633043 intron variant A/G;T snv 0.15 0.17 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: rs3130626
rs3130626
2 1.000 0.120 6 31630712 synonymous variant A/G snv 0.15 0.17 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: rs4935356
rs4935356
2 1.000 0.080 6 32444611 intron variant T/A;G snv 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: rs7195
rs7195
2 1.000 0.040 6 32444762 3 prime UTR variant A/G snv 0.61 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: rs8084
rs8084
2 1.000 0.120 6 32443258 splice acceptor variant A/C;T snv 0.61; 8.1E-06 0.700 1.000 1 2013 2013
dbSNP: rs9267532
rs9267532
2 1.000 0.120 6 31672202 missense variant C/T snv 7.4E-02 7.9E-02 0.700 1.000 1 2013 2013
dbSNP: rs9268658
rs9268658
2 1.000 0.040 6 32442939 intron variant G/A;C snv 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: rs12759054
rs12759054
3 1.000 0.040 1 233984064 intron variant T/A;C snv 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: rs28366298
rs28366298
3 0.925 0.120 6 32593082 upstream gene variant A/C;T snv 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: rs3130048
rs3130048
3 1.000 0.120 6 31645962 intron variant T/C snv 0.23 0.700 1.000 1 2013 2013
dbSNP: rs1048369
rs1048369
4 0.882 0.160 X 133303309 missense variant G/A snv 0.33 0.38 0.010 1.000 1 2019 2019
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