Source: ALL
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: rs3129843
rs3129843 		5 0.827 0.160 6 32427949 intergenic variant A/G snv 6.3E-02 0.700 1.000 1 2016 2016
dbSNP: rs3130614
rs3130614
MICB
1 1.000 0.080 6 31508681 intron variant T/A snv 7.3E-02 0.700 1.000 1 2015 2015
dbSNP: rs35677470
rs35677470
DNASE1L3
6 0.807 0.160 3 58197909 missense variant G/A;C snv 4.8E-02; 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs35929052
rs35929052 		5 0.827 0.160 16 85960878 downstream gene variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs4958880
rs4958880
TNIP1
4 0.851 0.160 5 151058916 intron variant C/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs58721818
rs58721818 		4 0.851 0.160 6 137922602 regulatory region variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs6599390
rs6599390
DGKQ
1 1.000 0.080 4 962259 intron variant A/G snv 0.69 0.700 1.000 1 2016 2016
dbSNP: rs6659932
rs6659932
IL12RB2
5 0.827 0.240 1 67336688 intron variant A/C snv 0.81 0.700 1.000 1 2019 2019
dbSNP: rs6679677
rs6679677
PHTF1
26 0.653 0.320 1 113761186 upstream gene variant C/A snv 6.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs744600
rs744600 		4 0.851 0.160 2 190700031 intron variant G/T snv 0.60 0.700 1.000 1 2019 2019
dbSNP: rs76246107
rs76246107
PRR12
4 0.851 0.160 19 49618017 intron variant G/A snv 7.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs7929541
rs7929541 		4 0.851 0.160 11 633689 upstream gene variant T/C snv 0.34 0.700 1.000 1 2019 2019
dbSNP: rs802791
rs802791
ATG5
4 0.851 0.160 6 106121395 intron variant T/C snv 0.75 0.700 1.000 1 2019 2019
dbSNP: rs9267488
rs9267488
ATP6V1G2 ; NFKBIL1 ; DDX39B ; ATP6V1G2-DDX39B
1 1.000 0.080 6 31546470 splice region variant A/G snv 8.1E-02 9.9E-02 0.700 1.000 1 2015 2015
dbSNP: rs1565191262
rs1565191262
FAM111B
4 1.000 0.080 11 59125559 frameshift variant T/- del 0.700 0
dbSNP: rs104895223
rs104895223
TNFRSF1A
4 0.882 0.240 12 6334108 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs1815739
rs1815739
ACTN3
17 0.763 0.240 11 66560624 stop gained C/T snv 0.37 0.010 1.000 1 2012 2012
dbSNP: rs2736340
rs2736340 		22 0.683 0.480 8 11486464 upstream gene variant C/T snv 0.25 0.010 1.000 1 2016 2016