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: rs17615
rs17615
CR2
5 0.827 0.200 1 207473117 missense variant G/A snv 0.26 0.31 0.010 1.000 1 2018 2018
dbSNP: rs17616
rs17616
CR2
1 1.000 0.080 1 207473578 missense variant G/A snv 0.26 0.30 0.010 1.000 1 2018 2018
dbSNP: rs4308977
rs4308977
CR2
2 0.925 0.160 1 207473553 missense variant T/A;C snv 4.0E-06; 0.27 0.010 1.000 1 2018 2018
dbSNP: rs1130866
rs1130866
SFTPB
9 0.827 0.160 2 85666618 missense variant G/A;C snv 0.50 0.010 1.000 1 2016 2016
dbSNP: rs4251961
rs4251961
IL1RN
10 0.763 0.200 2 113116890 intron variant T/C snv 0.29 0.010 1.000 1 2014 2014
dbSNP: rs1217371203
rs1217371203
CD86
4 0.882 0.120 3 122106342 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs5743708
rs5743708
TLR2
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.020 1.000 2 2015 2016
dbSNP: rs5743313
rs5743313
TLR3
4 0.851 0.200 4 186079213 intron variant C/T snv 0.19 0.010 1.000 1 2012 2012
dbSNP: rs4957796
rs4957796
FER
5 0.851 0.120 5 109066439 intron variant T/C snv 0.16 0.710 1.000 2 2015 2017
dbSNP: rs587782477
rs587782477
APC
4 0.882 0.120 5 112775679 missense variant A/T snv 0.010 1.000 1 2001 2001
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 1.000 1 2015 2015
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2015 2015
dbSNP: rs213950
rs213950
CFTR ; CFTR-AS1
16 0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57 0.010 1.000 1 2012 2012
dbSNP: rs113993959
rs113993959
CFTR
25 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.700 0
dbSNP: rs74597325
rs74597325
CFTR
18 0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05 0.700 0
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.020 1.000 2 2013 2015
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs868435969
rs868435969
VCP
3 0.925 0.280 9 35066710 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs12252
rs12252
IFITM3
23 0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13 0.010 1.000 1 2014 2014
dbSNP: rs7309123
rs7309123
CLEC7A ; LOC105369655
8 0.807 0.280 12 10119994 intron variant G/C snv 0.42 0.010 1.000 1 2016 2016
dbSNP: rs1045411
rs1045411
HMGB1
18 0.708 0.360 13 30459095 3 prime UTR variant C/T snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs1412125
rs1412125
HMGB1
17 0.724 0.360 13 30467458 intron variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2249825
rs2249825
HMGB1
23 0.695 0.440 13 30463766 5 prime UTR variant G/A;C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs879253740
rs879253740
NPC2 ; ISCA2
5 0.882 0.240 14 74493191 splice donor variant A/G snv 0.700 0
dbSNP: rs796051877
rs796051877
GAA
11 0.807 0.320 17 80110055 splice region variant G/A snv 4.0E-06 0.700 1.000 1 2015 2015