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: rs1048971
rs1048971
CR2
4 0.851 0.160 1 207472977 synonymous variant G/A;T snv 0.34; 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1206255976
rs1206255976
C1QA
4 0.851 0.160 1 22637618 start lost T/G snv 7.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs13023380
rs13023380
IFIH1
4 0.851 0.160 2 162297853 intron variant G/A snv 0.35 0.010 1.000 1 2013 2013
dbSNP: rs1876453
rs1876453
CR2
4 0.851 0.160 1 207454573 intron variant G/A snv 8.4E-02 0.010 1.000 1 2016 2016
dbSNP: rs3093061
rs3093061
CRP
4 0.851 0.160 1 159715192 upstream gene variant T/C snv 4.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs370504038
rs370504038
TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1
4 0.851 0.160 3 48467569 missense variant A/G snv 1.2E-04 1.2E-04 0.010 1.000 1 2011 2011
dbSNP: rs3813946
rs3813946
CR2
5 0.827 0.280 1 207454348 5 prime UTR variant T/C snv 0.16 0.020 1.000 2 2007 2012
dbSNP: rs10489265
rs10489265
TNFSF4 ; LOC100506023
5 0.827 0.200 1 173266926 regulatory region variant A/C snv 0.21 0.010 1.000 1 2013 2013
dbSNP: rs12938
rs12938
SELL ; C1orf112
5 0.851 0.160 1 169691640 3 prime UTR variant A/G snv 0.27 0.010 1.000 1 2005 2005
dbSNP: rs1518110
rs1518110
IL10 ; IL19
5 0.851 0.160 1 206771516 intron variant A/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs17615
rs17615
CR2
5 0.827 0.200 1 207473117 missense variant G/A snv 0.26 0.31 0.010 1.000 1 2007 2007
dbSNP: rs2070197
rs2070197
IRF5
6 0.827 0.280 7 128948946 3 prime UTR variant T/C snv 9.0E-02 0.010 1.000 1 2012 2012
dbSNP: rs292001
rs292001
C1QA
6 0.807 0.320 1 22638465 intron variant G/A snv 0.54 0.010 1.000 1 2015 2015
dbSNP: rs12583006
rs12583006
TNFSF13B
8 0.807 0.320 13 108285104 intron variant T/A snv 0.21 0.010 1.000 1 2018 2018
dbSNP: rs1341239
rs1341239
PRL ; CASC15
8 0.776 0.360 6 22303975 intron variant A/C snv 0.65 0.010 1.000 1 2015 2015
dbSNP: rs1518111
rs1518111
IL10 ; IL19
9 0.790 0.360 1 206771300 intron variant T/C snv 0.71 0.010 1.000 1 2018 2018
dbSNP: rs1678542
rs1678542
KIF5A
9 0.790 0.320 12 57574932 intron variant C/G snv 0.42 0.010 1.000 1 2015 2015
dbSNP: rs1980422
rs1980422 		9 0.776 0.320 2 203745673 intergenic variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs2205960
rs2205960
TNFSF4
9 0.763 0.400 1 173222336 intergenic variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs72556554
rs72556554
TREX1 ; ATRIP ; ATRIP-TREX1
9 0.776 0.400 3 48466996 missense variant G/A;C snv 2.1E-04; 2.7E-04 0.010 1.000 1 2011 2011
dbSNP: rs3131379
rs3131379
MSH5 ; MSH5-SAPCD1
10 0.752 0.440 6 31753256 intron variant G/A snv 6.4E-02 7.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs1270942
rs1270942
CFB ; CYP21A2
11 0.742 0.440 6 31951083 non coding transcript exon variant A/G snv 7.5E-02 0.010 1.000 1 2012 2012
dbSNP: rs11889341
rs11889341
STAT4
12 0.732 0.480 2 191079016 intron variant C/T snv 0.21 0.010 1.000 1 2018 2018
dbSNP: rs3810936
rs3810936
TNFSF15
12 0.742 0.320 9 114790605 synonymous variant T/C snv 0.71 0.75 0.010 1.000 1 2019 2019
dbSNP: rs10488631
rs10488631
TNPO3
13 0.742 0.280 7 128954129 upstream gene variant T/C snv 9.0E-02 0.010 1.000 1 2015 2015