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: rs17216707
rs17216707
6 20 54115823 intergenic variant T/C snv 0.17 0.700 1.000 5 2016 2019
dbSNP: rs3850625
rs3850625
3 1 201047168 missense variant G/A snv 0.12 8.9E-02 0.700 1.000 5 2016 2019
dbSNP: rs1275609
rs1275609
3 12 75877403 intron variant G/A snv 0.40 0.700 1.000 4 2018 2019
dbSNP: rs6971211
rs6971211
2 7 155871992 intergenic variant C/A;T snv 0.40 0.700 1.000 4 2017 2019
dbSNP: rs10265221
rs10265221
3 7 151717243 intron variant T/A;C snv 0.700 1.000 3 2016 2019
dbSNP: rs113246091
rs113246091
2 5 68443447 regulatory region variant G/A;T snv 8.7E-02 0.700 1.000 3 2017 2019
dbSNP: rs12722725
rs12722725
1 1 112716059 non coding transcript exon variant T/C snv 8.9E-02 0.700 1.000 3 2019 2019
dbSNP: rs12935539
rs12935539
2 16 51721080 intergenic variant T/C snv 0.23 0.700 1.000 3 2018 2019
dbSNP: rs1719934
rs1719934
1 18 5585159 intron variant A/G snv 0.37 0.700 1.000 3 2019 2019
dbSNP: rs2337106
rs2337106
4 18 48934533 intron variant C/A;G snv 0.700 1.000 3 2018 2019
dbSNP: rs2834317
rs2834317
2 21 33984405 regulatory region variant G/A snv 0.11 0.700 1.000 3 2019 2019
dbSNP: rs6127099
rs6127099
5 20 54114863 intergenic variant A/T snv 0.28 0.700 1.000 3 2017 2019
dbSNP: rs632887
rs632887
1 12 3283185 3 prime UTR variant A/G snv 0.44 0.700 1.000 3 2019 2019
dbSNP: rs7007761
rs7007761
1 8 23862058 TF binding site variant C/A;G;T snv 0.700 1.000 3 2019 2019
dbSNP: rs72683923
rs72683923
2 14 50269229 synonymous variant T/C snv 1.0E-02 9.9E-03 0.700 1.000 3 2019 2019
dbSNP: rs7475348
rs7475348
2 10 68205420 intron variant C/T snv 0.41 0.700 1.000 3 2018 2019
dbSNP: rs10254101
rs10254101
3 7 151718450 intron variant C/T snv 0.23 0.700 1.000 2 2017 2019
dbSNP: rs10746942
rs10746942
2 9 68819549 intron variant G/A snv 0.63 0.700 1.000 2 2017 2019
dbSNP: rs10774020
rs10774020
1 12 239710 intron variant T/C snv 0.58 0.700 1.000 2 2019 2019
dbSNP: rs10823156
rs10823156
1 10 68192084 intron variant G/C snv 0.45 0.700 1.000 2 2019 2019
dbSNP: rs10846157
rs10846157
1 12 15172097 intron variant A/C snv 0.29 0.700 1.000 2 2019 2019
dbSNP: rs10850001
rs10850001
1 12 112115228 intergenic variant T/A snv 0.36 0.700 1.000 2 2019 2019
dbSNP: rs11062167
rs11062167
2 12 255573 intron variant G/A snv 0.36 0.700 1.000 2 2017 2019
dbSNP: rs11103387
rs11103387
1 9 136216033 intron variant C/A;T snv 0.700 1.000 2 2019 2019
dbSNP: rs111366116
rs111366116
2 5 53999716 intron variant C/T snv 8.4E-02 0.700 1.000 2 2017 2019