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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1800871
rs1800871
IL10 ; IL19
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.700 1.000 1 2019 2019
dbSNP: rs2066844
rs2066844
NOD2
54 0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs12232497
rs12232497 		18 0.701 0.360 17 39883866 intergenic variant T/C snv 0.35 0.700 1.000 1 2019 2019
dbSNP: rs3027898
rs3027898
IRAK1
11 0.752 0.360 X 154010439 downstream gene variant C/A snv 0.010 1.000 1 2013 2013
dbSNP: rs3763313
rs3763313
BTNL2
7 0.807 0.320 6 32408694 upstream gene variant A/C snv 0.21 0.700 1.000 1 2019 2019
dbSNP: rs1800973
rs1800973
LYZ
9 0.827 0.320 12 69350234 missense variant C/A snv 4.2E-02 4.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs11757201
rs11757201 		5 0.851 0.040 6 137682685 intron variant G/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2523589
rs2523589 		4 0.851 0.200 6 31359557 upstream gene variant G/A;T snv 0.700 1.000 1 2019 2019
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: rs7749390
rs7749390
IFNGR1
3 0.882 0.120 6 137219233 5 prime UTR variant A/G;T snv 0.43; 4.4E-06 0.700 1.000 1 2019 2019
dbSNP: rs913678
rs913678 		6 0.882 0.240 20 50338887 regulatory region variant T/C snv 0.51 0.700 1.000 1 2019 2019
dbSNP: rs1353248
rs1353248
IL12A-AS1
2 0.925 0.120 3 159905770 intron variant C/T snv 0.32 0.700 1.000 1 2019 2019
dbSNP: rs1639150
rs1639150
TRAP1
3 0.925 0.120 16 3697203 intron variant C/T snv 0.49 0.010 1.000 1 2018 2018
dbSNP: rs2072379
rs2072379
TRAP1
3 0.925 0.120 16 3688886 intron variant C/T snv 0.75 0.010 1.000 1 2018 2018
dbSNP: rs2759663
rs2759663
CRB1
2 0.925 0.080 1 197415296 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs4313034
rs4313034
HLA-A ; HLA-J ; ZNRD1ASP
3 0.925 0.160 6 30006148 non coding transcript exon variant C/T snv 0.78 0.700 1.000 1 2019 2019
dbSNP: rs668998
rs668998
IL12A-AS1
2 0.925 0.120 3 159997764 non coding transcript exon variant G/A snv 0.63 0.700 1.000 1 2019 2019
dbSNP: rs76830965
rs76830965
IL12A-AS1
3 0.925 0.120 3 159919889 intron variant C/A;G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs7804122
rs7804122
SEMA3A
2 0.925 0.120 7 84005397 synonymous variant A/G snv 0.24 0.24 0.010 1.000 1 2019 2019
dbSNP: rs9276427
rs9276427
HLA-DQA2
2 0.925 0.120 6 32744080 intron variant T/C snv 0.57 0.700 1.000 1 2019 2019
dbSNP: rs10267578
rs10267578
SPATA48
1 1.000 0.040 7 50134961 intron variant C/T snv 0.51 0.700 1.000 1 2019 2019
dbSNP: rs10411970
rs10411970 		1 1.000 0.040 19 4814636 downstream gene variant C/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs10817678
rs10817678 		1 1.000 0.040 9 114817177 intergenic variant G/A snv 0.74 0.700 1.000 1 2019 2019
dbSNP: rs11204668
rs11204668
ADAMTSL4-AS1
1 1.000 0.040 1 150571210 intron variant G/A;C snv 0.700 1.000 1 2019 2019