Source: BEFREE ×
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: rs3764880
rs3764880
TLR8 ; TLR8-AS1
11 0.752 0.320 X 12906707 start lost A/G snv 0.31 0.30 0.030 1.000 3 2011 2019
dbSNP: rs3092923
rs3092923
CD40LG
1 1.000 0.080 X 136659026 intron variant T/C snv 0.17 0.28 0.010 1.000 1 2015 2015
dbSNP: rs3764879
rs3764879
TLR8 ; TLR8-AS1
6 0.807 0.320 X 12906578 intron variant C/G snv 0.30 0.010 1.000 1 2015 2015
dbSNP: rs574386
rs574386
SPRY3 ; TMLHE
1 1.000 0.080 X 155617828 intron variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs5917471
rs5917471
CYBB
2 0.925 0.080 X 37793265 intron variant C/T snv 0.55 0.010 1.000 1 2015 2015
dbSNP: rs11575886
rs11575886
MC3R
1 1.000 0.080 20 56248494 upstream gene variant A/G snv 8.0E-02 0.010 1.000 1 2014 2014
dbSNP: rs34069356
rs34069356
CTSZ
2 0.925 0.080 20 58995705 missense variant C/T snv 1.1E-03 4.3E-03 0.010 1.000 1 2013 2013
dbSNP: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.010 1.000 1 2011 2011
dbSNP: rs3859664
rs3859664
SIGLEC1
1 1.000 0.080 20 3691244 intron variant G/A snv 0.34 0.010 1.000 1 2017 2017
dbSNP: rs6127698
rs6127698
MC3R
2 0.925 0.080 20 56248360 upstream gene variant G/T snv 0.39 0.010 1.000 1 2013 2013
dbSNP: rs10421768
rs10421768
HAMP
6 0.807 0.120 19 35281996 intron variant A/G snv 0.21 0.010 1.000 1 2017 2017
dbSNP: rs373950030
rs373950030
CD209
3 0.882 0.080 19 7744967 missense variant C/T snv 2.0E-05 2.1E-05 0.010 1.000 1 2009 2009
dbSNP: rs4740
rs4740
EBI3
8 0.827 0.240 19 4236999 missense variant G/A snv 0.34 0.39 0.010 1.000 1 2015 2015
dbSNP: rs4804803
rs4804803
CD209
15 0.732 0.360 19 7747847 upstream gene variant A/G snv 0.26 0.010 1.000 1 2014 2014
dbSNP: rs4331426
rs4331426 		2 0.925 0.080 18 22610832 intergenic variant G/A snv 0.86 0.010 < 0.001 1 2016 2016
dbSNP: rs6507226
rs6507226 		1 1.000 0.080 18 22611328 intergenic variant A/G snv 0.45 0.010 1.000 1 2016 2016
dbSNP: rs1800870
rs1800870
ALDH3A2
5 0.851 0.200 17 19649164 intron variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs2072069
rs2072069
CCL13
2 0.925 0.120 17 34357972 intron variant G/A snv 0.47 0.010 1.000 1 2015 2015
dbSNP: rs2280789
rs2280789
CCL5 ; LOC105371744
3 0.925 0.080 17 35879999 intron variant A/G snv 0.16 0.010 1.000 1 2018 2018
dbSNP: rs3809849
rs3809849
MYBBP1A
3 0.882 0.120 17 4555303 missense variant G/C;T snv 0.21; 3.1E-05 0.010 < 0.001 1 2016 2016
dbSNP: rs9905742
rs9905742
MYBBP1A
1 1.000 0.080 17 4539780 missense variant T/A snv 3.0E-02 2.7E-02 0.010 < 0.001 1 2016 2016
dbSNP: rs9939609
rs9939609
FTO
80 0.559 0.720 16 53786615 intron variant T/A snv 0.41 0.020 1.000 2 2014 2017
dbSNP: rs12596308
rs12596308
QPRT
2 0.925 0.120 16 29679875 intron variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs17842268
rs17842268
QPRT
2 0.925 0.120 16 29672859 intron variant T/C snv 0.36 0.010 1.000 1 2015 2015
dbSNP: rs2230424
rs2230424
ITGAX
1 1.000 0.080 16 31355997 missense variant T/C snv 8.6E-02 9.0E-02 0.010 < 0.001 1 2009 2009