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: rs113700287
rs113700287
4 3 24293020 intron variant -/GTT delins 0.700 1.000 1 2016 2016
dbSNP: rs11426768
rs11426768
1 16 68766738 intron variant -/T;TT;TTTTTTTT;TTTTTTTTTTTTTT delins 0.700 1.000 1 2016 2016
dbSNP: rs66567989
rs66567989
2 18 660442 intron variant A/- del 0.11 0.700 1.000 1 2016 2016
dbSNP: rs67250268
rs67250268
4 6 26135269 intron variant A/-;AA delins 0.700 1.000 1 2012 2012
dbSNP: rs149727694
rs149727694
1 3 101442847 intron variant A/-;AA;AAA delins 0.700 1.000 1 2016 2016
dbSNP: rs141007801
rs141007801
2 6 21722558 intron variant A/-;AA;AAA;AAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs2713936
rs2713936
2 15 56253787 intron variant A/C snv 0.32 0.700 1.000 2 2016 2019
dbSNP: rs592423
rs592423
6 6 139519556 intron variant A/C snv 0.50 0.700 1.000 2 2016 2017
dbSNP: rs11244669
rs11244669
4 10 125844213 intron variant A/C snv 0.28 0.700 1.000 1 2019 2019
dbSNP: rs117246501
rs117246501
1 11 126914365 intron variant A/C snv 2.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs12196049
rs12196049
2 6 121464945 intergenic variant A/C snv 0.18 0.700 1.000 1 2019 2019
dbSNP: rs12324750
rs12324750
1 15 82013990 upstream gene variant A/C snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs12457342
rs12457342
1 18 46085594 non coding transcript exon variant A/C snv 1.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs12628403
rs12628403
1 22 38962032 intron variant A/C snv 8.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs13295887
rs13295887
1 9 112077745 intron variant A/C snv 0.25 0.700 1.000 1 2019 2019
dbSNP: rs139832438
rs139832438
1 6 134655542 intron variant A/C snv 8.7E-03 0.700 1.000 1 2019 2019
dbSNP: rs1433210
rs1433210
1 4 123845801 intron variant A/C snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs1578741
rs1578741
2 1 117716081 intergenic variant A/C snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs17302154
rs17302154
3 2 196183605 intergenic variant A/C snv 9.8E-02 0.700 1.000 1 2019 2019
dbSNP: rs17700466
rs17700466
2 7 93006659 regulatory region variant A/C snv 0.12 0.700 1.000 1 2018 2018
dbSNP: rs191245241
rs191245241
1 14 65121054 downstream gene variant A/C snv 7.8E-03 0.700 1.000 1 2019 2019
dbSNP: rs2072671
rs2072671
CDA
16 0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 0.700 1.000 1 2019 2019
dbSNP: rs2224797
rs2224797
2 13 75636606 5 prime UTR variant A/C snv 0.50 0.700 1.000 1 2019 2019
dbSNP: rs2857078
rs2857078
5 17 44252803 intron variant A/C snv 0.62 0.700 1.000 1 2019 2019
dbSNP: rs2858942
rs2858942
2 16 175654 upstream gene variant A/C snv 0.76 0.700 1.000 1 2010 2010