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: rs7549785
rs7549785
3 0.925 0.080 1 159308078 3 prime UTR variant G/A snv 0.13 0.710 1.000 1 2019 2019
dbSNP: rs12614
rs12614
5 0.851 0.160 6 31946402 missense variant C/G;T snv 4.1E-06; 0.12 0.700 1.000 1 2015 2015
dbSNP: rs1419881
rs1419881
4 0.851 0.280 6 31162816 3 prime UTR variant G/A snv 0.50 0.700 1.000 1 2015 2015
dbSNP: rs1883832
rs1883832
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.700 1.000 1 2015 2015
dbSNP: rs2853953
rs2853953
1 1.000 0.080 6 31267728 downstream gene variant G/A snv 0.20 0.700 1.000 1 2015 2015
dbSNP: rs3130542
rs3130542
8 0.827 0.160 6 31264334 downstream gene variant A/G snv 0.81 0.700 1.000 1 2015 2015
dbSNP: rs378352
rs378352
2 0.925 0.200 6 33007157 synonymous variant G/A;C snv 0.20 0.700 1.000 1 2015 2015
dbSNP: rs422951
rs422951
8 0.807 0.280 6 32220606 missense variant T/C snv 0.40 0.40 0.700 1.000 1 2015 2015
dbSNP: rs61886277
rs61886277
1 1.000 0.080 10 94012060 intergenic variant C/T snv 0.19 0.700 1.000 1 2019 2019
dbSNP: rs652888
rs652888
10 0.776 0.480 6 31883457 non coding transcript exon variant A/G snv 0.18 0.20 0.700 1.000 1 2015 2015
dbSNP: rs7756516
rs7756516
4 0.851 0.280 6 32756140 3 prime UTR variant C/T snv 0.49 0.700 1.000 1 2014 2014
dbSNP: rs78900671
rs78900671
1 1.000 0.080 8 138653967 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs9276370
rs9276370
3 0.882 0.200 6 32739518 upstream gene variant G/T snv 0.51 0.700 1.000 1 2014 2014
dbSNP: rs9287655
rs9287655
1 1.000 0.080 2 15245360 intron variant C/T snv 0.45 0.700 1.000 1 2019 2019
dbSNP: rs9366816
rs9366816
2 0.925 0.080 6 33136398 intron variant T/C snv 0.22 0.700 1.000 1 2014 2014
dbSNP: rs1010023
rs1010023
4 0.851 0.080 22 43940218 intron variant T/C snv 0.20 0.010 1.000 1 2017 2017
dbSNP: rs1053005
rs1053005
10 0.763 0.360 17 42313892 3 prime UTR variant T/C snv 0.25 0.010 1.000 1 2018 2018
dbSNP: rs1054690270
rs1054690270
5 0.827 0.160 8 144505907 frameshift variant CT/- delins 0.010 1.000 1 2018 2018
dbSNP: rs11465817
rs11465817
4 0.882 0.120 1 67255414 intron variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs11556218
rs11556218
27 0.653 0.600 15 81305928 missense variant T/G snv 9.6E-02 0.12 0.010 1.000 1 2011 2011
dbSNP: rs117648444
rs117648444
3 0.882 0.160 19 39247938 missense variant G/A snv 0.25 8.1E-02 0.010 1.000 1 2018 2018
dbSNP: rs11977021
rs11977021
5 0.827 0.240 7 106288069 upstream gene variant C/T snv 0.22 0.010 1.000 1 2016 2016
dbSNP: rs12252
rs12252
23 0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13 0.010 1.000 1 2019 2019
dbSNP: rs12354
rs12354
2 0.925 0.080 12 6390939 3 prime UTR variant T/A;G snv 1.6E-04; 0.76 0.010 1.000 1 2017 2017
dbSNP: rs12980275
rs12980275
23 0.701 0.360 19 39241143 upstream gene variant A/G snv 0.36 0.010 1.000 1 2012 2012