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: rs11957129
rs11957129
1 5 178183210 downstream gene variant C/A;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs12052715
rs12052715
2 2 159820864 intron variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs12096438
rs12096438
2 1 25562931 non coding transcript exon variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs12608697
rs12608697
1 19 38275020 intron variant C/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs13042885
rs13042885
2 20 1944061 upstream gene variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs13300663
rs13300663
3 9 4814948 intron variant G/A;C snv 0.800 1.000 1 2011 2011
dbSNP: rs139332374
rs139332374
1 6 31134528 intron variant A/G snv 0.700 1.000 1 2018 2018
dbSNP: rs140884840
rs140884840
1 10 24911877 intron variant CAAACAAA/-;CAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs141749350
rs141749350
1 4 54534440 intergenic variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs143378367
rs143378367
1 19 19523443 intron variant T/-;TT;TTT delins 0.700 1.000 1 2016 2016
dbSNP: rs144744357
rs144744357
1 19 17084024 intron variant TTAATAACCCTTTGGG/-;TTAATAACCCTTTGGGTTAATAACCCTTTGGG delins 0.700 1.000 1 2016 2016
dbSNP: rs149290349
rs149290349
3 2 43224818 missense variant G/A;T snv 6.7E-02 0.700 1.000 1 2016 2016
dbSNP: rs1506636
rs1506636
1 7 123677086 downstream gene variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1522744
rs1522744
2 15 64895675 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1538970
rs1538970
1 1 45381890 intron variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs156357
rs156357
1 20 1838649 regulatory region variant C/A;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1668871
rs1668871
2 1 205268009 intron variant T/C;G snv 0.800 1.000 1 2011 2011
dbSNP: rs169738
rs169738
3 1.000 0.040 6 33569769 intron variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs17127170
rs17127170
1 10 110232464 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs17145750
rs17145750
9 0.925 0.120 7 73612048 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs174548
rs174548
17 0.851 0.160 11 61803876 5 prime UTR variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs17568628
rs17568628
2 5 76751114 intergenic variant T/C;G snv 0.800 1.000 1 2011 2011
dbSNP: rs17572109
rs17572109
3 2 218229211 non coding transcript exon variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1801689
rs1801689
7 17 66214462 missense variant A/C;G snv 4.0E-06; 2.4E-02; 4.8E-05 0.700 1.000 1 2016 2016
dbSNP: rs183725
rs183725
1 16 8954178 intron variant T/A;C;G snv 0.700 1.000 1 2016 2016