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: rs113871094
rs113871094
34 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
dbSNP: rs1555257073
rs1555257073
25 0.827 0.120 13 28672407 frameshift variant AT/- delins 0.700 0
dbSNP: rs886040971
rs886040971
56 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
dbSNP: rs1057519847
rs1057519847
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.010 1.000 1 2018 2018
dbSNP: rs1057519848
rs1057519848
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.010 1.000 1 2018 2018
dbSNP: rs1128503
rs1128503
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.010 1.000 1 2017 2017
dbSNP: rs11942466
rs11942466
1 4 74556361 intron variant C/A snv 0.27 0.010 1.000 1 2018 2018
dbSNP: rs121434568
rs121434568
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs1893592
rs1893592
12 0.742 0.280 21 42434957 missense variant A/C;G snv 0.27; 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs2069762
rs2069762
IL2
23 0.672 0.560 4 122456825 upstream gene variant A/C snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs2234693
rs2234693
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.010 < 0.001 1 2017 2017
dbSNP: rs750713244
rs750713244
4 0.925 0.200 7 55157753 missense variant A/G snv 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs8176345
rs8176345
1 12 57764775 synonymous variant C/T snv 2.3E-02 2.1E-02 0.010 1.000 1 2016 2016
dbSNP: rs9996584
rs9996584
1 4 74556244 intron variant A/G snv 0.59 0.010 1.000 1 2018 2018