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: rs376373278
rs376373278
MPO
3 0.882 0.120 17 58279015 missense variant G/A;C snv 4.2E-06 0.020 1.000 2 2011 2012
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.020 1.000 2 2011 2012
dbSNP: rs972427414
rs972427414
MPO
3 0.882 0.120 17 58279379 missense variant A/G snv 0.020 1.000 2 2011 2012
dbSNP: rs1049305
rs1049305
AQP1
4 0.925 0.160 7 30924207 3 prime UTR variant G/C snv 0.52 0.010 1.000 1 2011 2011
dbSNP: rs1431315635
rs1431315635
HFE ; LOC108783645
3 0.882 0.120 6 26092928 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs143175221
rs143175221
HFE ; LOC108783645
5 0.827 0.200 6 26092952 missense variant T/C snv 8.4E-04 5.6E-04 0.010 1.000 1 2011 2011
dbSNP: rs3077
rs3077
HLA-DPA1
16 0.701 0.440 6 33065245 3 prime UTR variant A/G snv 0.29 0.010 < 0.001 1 2011 2011
dbSNP: rs755284374
rs755284374
HFE
3 0.882 0.120 6 26093122 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs897206619
rs897206619
HFE
3 0.882 0.120 6 26093128 missense variant C/T snv 3.5E-05 0.010 1.000 1 2011 2011
dbSNP: rs7975232
rs7975232
VDR
56 0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55 0.030 1.000 3 2012 2020
dbSNP: rs8099917
rs8099917 		60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.030 0.667 3 2012 2017
dbSNP: rs16851720
rs16851720
RNF7
5 0.827 0.120 3 141744456 intron variant A/C snv 0.21 0.810 0.500 2 2012 2017
dbSNP: rs28934571
rs28934571
TP53
31 0.645 0.360 17 7674216 missense variant C/A;G snv 0.020 1.000 2 2012 2013
dbSNP: rs4074
rs4074
CXCL1
6 0.827 0.200 4 73870427 intron variant A/G snv 0.46 0.020 1.000 2 2012 2013
dbSNP: rs4374383
rs4374383
MERTK
10 0.776 0.200 2 112013193 intron variant A/G snv 0.58 0.810 1.000 2 2012 2017
dbSNP: rs4444903
rs4444903
EGF
35 0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51 0.020 1.000 2 2012 2014
dbSNP: rs1201810520
rs1201810520
EIF2AK3
2 0.925 0.160 2 88590497 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs2629751
rs2629751
GLT8D2
2 0.925 0.120 12 104028030 intron variant A/G snv 0.36 0.800 1.000 1 2012 2012
dbSNP: rs3820998
rs3820998
TANK ; LOC105373719
3 0.882 0.120 2 161138615 intron variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs3859501
rs3859501
MIR371A ; MIR372 ; MIR373 ; MIR371B
3 0.882 0.120 19 53788157 non coding transcript exon variant A/C snv 0.43 0.010 1.000 1 2012 2012
dbSNP: rs731236
rs731236
VDR
81 0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 0.010 1.000 1 2012 2012
dbSNP: rs7536540
rs7536540
JAK1 ; MIR101-1 ; MIR3671
3 0.882 0.160 1 65058899 intron variant C/G;T snv 0.65 0.010 1.000 1 2012 2012
dbSNP: rs9380516
rs9380516 		2 0.925 0.120 6 35534425 TF binding site variant T/C snv 0.85 0.800 1.000 1 2012 2012
dbSNP: rs2596542
rs2596542
MICA ; MICA-AS1
18 0.724 0.200 6 31398818 upstream gene variant C/T snv 0.41 0.030 0.667 3 2013 2018