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: 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 1 2016 2016
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.700 1.000 1 2019 2019
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.800 1.000 2 2009 2016
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.700 1.000 1 2016 2016
dbSNP: rs653178
rs653178
ATXN2
41 0.672 0.600 12 111569952 intron variant C/T snv 0.67 0.700 1.000 1 2016 2016
dbSNP: rs7679673
rs7679673 		28 0.677 0.440 4 105140377 intron variant C/A snv 0.50 0.700 1.000 1 2016 2016
dbSNP: rs964184
rs964184
ZPR1
47 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 0.700 1.000 1 2019 2019
dbSNP: rs7080536
rs7080536
HABP2 ; NRAP
27 0.683 0.360 10 113588287 missense variant G/A snv 2.2E-02 2.4E-02 0.700 1.000 2 2016 2019
dbSNP: rs2814778
rs2814778
ACKR1 ; CADM3-AS1
24 0.763 0.360 1 159204893 5 prime UTR variant T/C snv 0.25 0.700 1.000 1 2016 2016
dbSNP: rs17445836
rs17445836 		5 0.851 0.320 16 85984057 intron variant G/A snv 0.15 0.700 1.000 1 2016 2016
dbSNP: rs1420101
rs1420101
IL18R1 ; IL1RL1
8 0.827 0.280 2 102341256 synonymous variant C/T snv 0.33 0.35 0.800 1.000 1 2009 2009
dbSNP: rs2111485
rs2111485 		17 0.724 0.280 2 162254026 regulatory region variant A/G snv 0.46 0.700 1.000 1 2019 2019
dbSNP: rs34210653
rs34210653
ALOX15
8 0.807 0.280 17 4632019 missense variant G/A snv 2.7E-02 1.7E-02 0.700 1.000 1 2016 2016
dbSNP: rs3757387
rs3757387
IRF5
6 0.851 0.280 7 128936032 upstream gene variant T/C snv 0.38 0.700 1.000 1 2019 2019
dbSNP: rs2239633
rs2239633
CEBPE
12 0.742 0.240 14 23119848 upstream gene variant G/A snv 0.38 0.700 1.000 2 2016 2019
dbSNP: rs1059513
rs1059513
NAB2 ; STAT6
11 0.776 0.240 12 57095926 3 prime UTR variant T/C snv 8.0E-02 0.700 1.000 1 2016 2016
dbSNP: rs1444782
rs1444782 		5 0.851 0.240 10 9016708 intergenic variant G/A snv 0.35 0.700 1.000 1 2019 2019
dbSNP: rs17293632
rs17293632
SMAD3
12 0.763 0.240 15 67150258 intron variant C/T snv 0.17 0.700 1.000 1 2019 2019
dbSNP: rs174549
rs174549
FADS1 ; FADS2
12 0.851 0.240 11 61803910 5 prime UTR variant G/A snv 0.26 0.700 1.000 1 2016 2016
dbSNP: rs1837253
rs1837253 		10 0.790 0.240 5 111066174 upstream gene variant T/C snv 0.72 0.700 1.000 1 2016 2016
dbSNP: rs334
rs334
HBB
35 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.700 1.000 1 2019 2019
dbSNP: rs4409785
rs4409785 		12 0.752 0.240 11 95578258 intron variant T/C snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs4676410
rs4676410
GPR35
17 0.716 0.240 2 240624322 intron variant G/A snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs62324212
rs62324212
IL21-AS1
15 0.724 0.240 4 122639784 intron variant C/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs7705526
rs7705526
TERT
15 0.776 0.240 5 1285859 intron variant C/A;T snv 0.700 1.000 1 2016 2016