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: 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: 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: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.020 1.000 2 2008 2010
dbSNP: rs368234815
rs368234815
IFNL4
15 0.742 0.280 19 39248514 frameshift variant TT/G;T delins 0.020 1.000 2 2015 2016
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: 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: rs11212495
rs11212495
CUL5
1 1.000 11 108048172 intron variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1291142
rs1291142
SAMHD1
1 1.000 20 36896959 intron variant A/G;T snv 0.010 < 0.001 1 2012 2012
dbSNP: rs139292
rs139292
APOBEC3H
1 1.000 22 39100318 inframe deletion CAA/- delins 0.010 1.000 1 2016 2016
dbSNP: rs139297
rs139297
APOBEC3H
1 1.000 22 39101399 missense variant G/A;C;T snv 4.0E-06; 0.47 0.010 1.000 1 2016 2016
dbSNP: rs1406795590
rs1406795590
TMED2
1 1.000 12 123586856 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs146215995
rs146215995
TRIM5
1 1.000 11 5679850 missense variant C/A;T snv 8.0E-06; 9.5E-05 0.010 1.000 1 2009 2009
dbSNP: rs147879075
rs147879075
CCR5 ; CCR5AS
1 1.000 3 46373902 stop gained C/A;G;T snv 1.6E-05; 8.2E-06; 4.1E-06 0.010 1.000 1 2015 2015
dbSNP: rs17878969
rs17878969
VDR
1 1.000 12 47842624 3 prime UTR variant TTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT delins 0.010 1.000 1 2008 2008
dbSNP: rs184279915
rs184279915
CCR5 ; CCR5AS
1 1.000 3 46373708 missense variant G/A;T snv 3.2E-05; 1.2E-05 0.010 1.000 1 2004 2004
dbSNP: rs2294367
rs2294367
APOBEC3G
1 1.000 22 39083569 intron variant C/A;G snv 0.010 1.000 1 2017 2017
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: rs35228531
rs35228531
APOBEC3G
1 1.000 22 39087839 upstream gene variant C/G;T snv 0.010 1.000 1 2016 2016
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: rs6850
rs6850
PPIA ; LOC105375259
9 0.790 0.160 7 44796715 5 prime UTR variant A/G;T snv 0.26; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs749701046
rs749701046
DNAH8
1 1.000 6 38723032 missense variant G/A snv 4.1E-06 0.010 1.000 1 2017 2017
dbSNP: rs753269867
rs753269867
THBS1
2 0.925 0.080 15 39582202 missense variant G/C snv 6.3E-05 0.010 1.000 1 2003 2003
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: 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: 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