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: rs3957146
rs3957146 		3 0.882 0.200 6 32713753 upstream gene variant T/C snv 9.1E-02 0.010 1.000 1 2020 2020
dbSNP: rs5400
rs5400
SLC2A2
1 1.000 0.120 3 171014511 missense variant G/A snv 0.15 0.23 0.010 1.000 1 2020 2020
dbSNP: rs10766196
rs10766196
CYP2R1
2 0.925 0.120 11 14891585 5 prime UTR variant A/G snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs10914542
rs10914542
LCK
2 0.925 0.120 1 32262639 intron variant C/G snv 0.15 0.010 1.000 1 2019 2019
dbSNP: rs11014284
rs11014284
CACNB2
2 0.925 0.240 10 18451155 intron variant T/G snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs11170445
rs11170445 		1 1.000 0.120 12 53151908 upstream gene variant C/T snv 0.33 0.700 1.000 1 2019 2019
dbSNP: rs11568820
rs11568820
VDR
27 0.672 0.480 12 47908762 intron variant C/T snv 0.38 0.010 1.000 1 2019 2019
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.010 1.000 1 2019 2019
dbSNP: rs11651270
rs11651270
NLRP1
4 0.882 0.240 17 5521757 missense variant T/C snv 0.45 0.47 0.010 1.000 1 2019 2019
dbSNP: rs1770
rs1770
HLA-DQB1 ; HLA-DQB1-AS1
1 1.000 0.120 6 32660056 splice region variant A/G snv 0.31 0.710 1.000 1 2019 2019
dbSNP: rs1800624
rs1800624
AGER ; PBX2
33 0.658 0.480 6 32184610 upstream gene variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2043211
rs2043211
CARD8
29 0.653 0.480 19 48234449 missense variant A/T snv 0.33 0.29 0.010 < 0.001 1 2019 2019
dbSNP: rs2085277
rs2085277 		1 1.000 0.120 13 31593580 intergenic variant A/T snv 2.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs2281135
rs2281135
PNPLA3
10 0.851 0.160 22 43936690 intron variant G/A snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs2670660
rs2670660
NLRP1
15 0.708 0.400 17 5615686 intron variant A/G snv 0.41 0.010 1.000 1 2019 2019
dbSNP: rs3176792
rs3176792
CD69
1 1.000 0.120 12 9758491 intron variant A/T snv 6.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs35829419
rs35829419
NLRP3
23 0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02 0.010 < 0.001 1 2019 2019
dbSNP: rs3802604
rs3802604
GATA3
4 0.882 0.200 10 8060309 intron variant G/A snv 0.51 0.710 1.000 1 2019 2019
dbSNP: rs4320356
rs4320356
BTN2A3P
1 1.000 0.120 6 26423332 non coding transcript exon variant C/T snv 0.54 0.710 1.000 1 2019 2019
dbSNP: rs45450798
rs45450798
PTPN2
2 1.000 0.120 18 12792941 3 prime UTR variant C/G snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs5742909
rs5742909
CTLA4
40 0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs5790666
rs5790666 		1 1.000 0.120 11 27778324 intron variant G/- delins 0.14 0.700 1.000 1 2019 2019
dbSNP: rs705699
rs705699
RAB5B ; SUOX
5 0.882 0.160 12 55991020 non coding transcript exon variant G/A snv 0.40 0.710 1.000 1 2019 2019
dbSNP: rs883868
rs883868
UBASH3A
1 1.000 0.120 21 42424983 intron variant T/C snv 0.48 0.010 1.000 1 2019 2019
dbSNP: rs9268853
rs9268853
HLA-DRB9
10 0.790 0.440 6 32461866 intron variant T/C snv 0.29 0.700 1.000 1 2019 2019