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: 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: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 2 2016 2019
dbSNP: rs11066301
rs11066301
PTPN11
12 0.827 0.200 12 112433568 intron variant A/G snv 0.30 0.700 1.000 1 2019 2019
dbSNP: rs114042950
rs114042950 		1 1.000 0.080 6 32699098 intergenic variant A/G snv 0.700 1.000 1 2015 2015
dbSNP: rs114050967
rs114050967
DDX39B ; SNORD117 ; ATP6V1G2-DDX39B
1 1.000 0.080 6 31537703 intron variant A/G snv 0.700 1.000 1 2015 2015
dbSNP: rs115902351
rs115902351
HCP5
1 1.000 0.080 6 31466844 non coding transcript exon variant A/G snv 0.700 1.000 1 2015 2015
dbSNP: rs13101828
rs13101828
DGKQ
6 0.851 0.160 4 971932 intron variant A/G snv 0.43 0.700 1.000 1 2019 2019
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: 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: 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: rs5754467
rs5754467
YDJC ; CCDC116
4 0.851 0.160 22 21630805 upstream gene variant A/G;T snv 0.700 1.000 2 2016 2019
dbSNP: rs2431098
rs2431098 		5 0.827 0.240 5 160460329 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs114388793
rs114388793 		1 1.000 0.080 6 32699566 intergenic variant A/T snv 0.700 1.000 1 2015 2015
dbSNP: rs115146037
rs115146037
HCP5
1 1.000 0.080 6 31466554 non coding transcript exon variant A/T snv 0.700 1.000 1 2015 2015
dbSNP: rs116662199
rs116662199
MICB-DT
1 1.000 0.080 6 31481199 non coding transcript exon variant C/A snv 0.700 1.000 1 2015 2015
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: rs4958880
rs4958880
TNIP1
4 0.851 0.160 5 151058916 intron variant C/A;G snv 0.700 1.000 1 2019 2019
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: rs35929052
rs35929052 		5 0.827 0.160 16 85960878 downstream gene variant C/G;T 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: rs10954214
rs10954214
IRF5
4 0.851 0.160 7 128949579 3 prime UTR variant C/T snv 0.64 0.700 1.000 1 2019 2019
dbSNP: rs11085725
rs11085725
TYK2
4 0.851 0.160 19 10351837 intron variant C/T snv 0.24 0.700 1.000 1 2019 2019
dbSNP: rs13238352
rs13238352
TNPO3
5 0.827 0.240 7 129007888 intron variant C/T snv 9.1E-02 0.700 1.000 1 2019 2019
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