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: rs17810546
rs17810546
IL12A-AS1
7 0.827 0.440 3 159947262 intron variant A/G snv 8.2E-02 0.820 1.000 4 2008 2020
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 0.667 3 2005 2019
dbSNP: rs35829419
rs35829419
NLRP3
23 0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02 0.020 1.000 2 2011 2019
dbSNP: rs2043211
rs2043211
CARD8
29 0.653 0.480 19 48234449 missense variant A/T snv 0.33 0.29 0.010 1.000 1 2019 2019
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.040 1.000 4 2002 2018
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.030 1.000 3 2002 2018
dbSNP: rs2501432
rs2501432
CNR2
16 0.716 0.480 1 23875430 missense variant T/C;G snv 0.62 0.020 1.000 2 2012 2018
dbSNP: rs35761398
rs35761398
CNR2
19 0.701 0.520 1 23875429 missense variant TT/CC mnv 0.020 1.000 2 2012 2018
dbSNP: rs879761216
rs879761216
CNR2
14 0.732 0.480 1 23875429 frameshift variant TT/C;T delins 0.020 1.000 2 2012 2018
dbSNP: rs1161457931
rs1161457931
TMPRSS6
9 0.763 0.200 22 37084836 missense variant C/T snv 6.4E-06 0.010 1.000 1 2018 2018
dbSNP: rs1208663703
rs1208663703
TMPRSS6
9 0.763 0.200 22 37086414 missense variant T/C snv 5.2E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs2041570
rs2041570
LOC107986781
2 0.925 0.080 7 31159653 intergenic variant G/A snv 0.50 0.710 1.000 1 2018 2018
dbSNP: rs738409
rs738409
PNPLA3
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2018 2018
dbSNP: rs855791
rs855791
TMPRSS6
38 0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs2305767
rs2305767
MYO9B
4 0.882 0.280 19 17183487 intron variant C/T snv 0.70 0.040 0.750 4 2010 2017
dbSNP: rs11100722
rs11100722 		1 1.000 0.080 4 141616307 intergenic variant G/C snv 0.77 0.010 1.000 1 2017 2017
dbSNP: rs1800796
rs1800796
IL6 ; STEAP1B ; IL6-AS1
74 0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02 0.010 1.000 1 2017 2017
dbSNP: rs2275913
rs2275913
IL17A
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.010 1.000 1 2017 2017
dbSNP: rs4956400
rs4956400 		1 1.000 0.080 4 141556189 intergenic variant T/C snv 0.75 0.010 1.000 1 2017 2017
dbSNP: rs1457092
rs1457092
MYO9B
8 0.790 0.320 19 17193427 intron variant C/A snv 0.44 0.040 0.750 4 2007 2016
dbSNP: rs17264332
rs17264332 		2 0.925 0.200 6 137684378 intron variant A/G;T snv 0.800 1.000 3 2011 2016
dbSNP: rs1980422
rs1980422 		9 0.776 0.320 2 203745673 intergenic variant C/A;T snv 0.800 1.000 3 2011 2016
dbSNP: rs2816316
rs2816316
LOC105371664
5 0.882 0.200 1 192567683 intron variant C/A snv 0.79 0.810 1.000 3 2008 2016
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.020 0.500 2 2015 2016
dbSNP: rs1893592
rs1893592
UBASH3A
12 0.742 0.280 21 42434957 missense variant A/C;G snv 0.27; 8.0E-06 0.800 1.000 2 2011 2016