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: rs7103534
rs7103534
CUL5
1 1.000 11 108040925 intron variant T/C snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs7117111
rs7117111
CUL5
1 1.000 11 108046360 synonymous variant A/G snv 0.68 0.59 0.010 1.000 1 2017 2017
dbSNP: rs11212495
rs11212495
CUL5
1 1.000 11 108048172 intron variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs777521033
rs777521033
CSF1
1 1.000 1 109923705 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1143634
rs1143634
IL1B
51 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2012 2012
dbSNP: rs4986790
rs4986790
TLR4
221 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.020 1.000 2 2010 2019
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2010 2010
dbSNP: rs1406795590
rs1406795590
TMED2
1 1.000 12 123586856 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs8177374
rs8177374
TIRAP
22 0.672 0.520 11 126292948 missense variant C/T snv 0.12 0.11 0.010 1.000 1 2012 2012
dbSNP: rs766914563
rs766914563
CXCR4 ; LOC112268426
16 0.732 0.320 2 136115082 synonymous variant C/T snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs371074389
rs371074389
CXCR4 ; LOC112268426
16 0.732 0.320 2 136115226 synonymous variant C/T snv 4.0E-06 4.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs781172058
rs781172058
CXCR4
16 0.732 0.320 2 136115340 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs763059810
rs763059810
CXCR4
41 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 0.030 1.000 3 2002 2014
dbSNP: rs4704846
rs4704846
HAVCR2
2 1.000 5 157086333 3 prime UTR variant G/A snv 0.79 0.010 1.000 1 2014 2014
dbSNP: rs10415893
rs10415893 		1 1.000 19 17401603 upstream gene variant G/A snv 0.18 0.010 1.000 1 2013 2013
dbSNP: rs9576
rs9576
BST2
1 1.000 19 17403172 3 prime UTR variant T/G snv 0.92 0.010 1.000 1 2016 2016
dbSNP: rs3217318
rs3217318
BST2 ; MVB12A ; BISPR
1 1.000 19 17406018 non coding transcript exon variant GGGGCGGGGCCTGGGTCTG/-;GGGGCGGGGCCTGGGTCTGGGGGCGGGGCCTGGGTCTG delins 0.010 1.000 1 2013 2013
dbSNP: rs3775291
rs3775291
TLR3
51 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 0.010 1.000 1 2013 2013
dbSNP: rs10754558
rs10754558
NLRP3
20 0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv 0.020 1.000 2 2010 2012
dbSNP: rs1063320
rs1063320
HLA-G
12 0.752 0.360 6 29830972 3 prime UTR variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs3869068
rs3869068
ZNRD1ASP
1 0.925 6 30036275 intron variant C/T snv 0.17 0.010 1.000 1 2017 2017
dbSNP: rs8321
rs8321
ZNRD1
1 0.742 0.320 6 30064745 3 prime UTR variant A/C snv 5.4E-02 5.9E-02 0.010 1.000 1 2017 2017
dbSNP: rs9264942
rs9264942
HLA-B ; LOC112267902
8 0.763 0.400 6 31306603 intron variant T/C snv 0.34 0.010 1.000 1 2017 2017
dbSNP: rs10484554
rs10484554
HLA-B ; LOC112267902
5 0.807 0.200 6 31306778 intron variant C/T snv 0.12 0.010 1.000 1 2017 2017
dbSNP: rs12252
rs12252
IFITM3
22 0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13 0.010 1.000 1 2015 2015