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: 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: rs10415893
rs10415893 		1 1.000 19 17401603 upstream gene variant G/A snv 0.18 0.010 1.000 1 2013 2013
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: 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: rs10808739
rs10808739
CYP7B1
1 0.882 8 64727703 intron variant G/A snv 0.24 0.010 1.000 1 2015 2015
dbSNP: rs10831234
rs10831234
MRE11 ; ANKRD49
1 1.000 11 94500021 downstream gene variant C/T snv 0.11 0.010 1.000 1 2019 2019
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: rs12979860
rs12979860
IFNL4
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.010 1.000 1 2018 2018
dbSNP: rs139292
rs139292
APOBEC3H
1 1.000 22 39100318 inframe deletion CAA/- delins 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: 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: rs1801157
rs1801157
CXCL12
46 0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16 0.010 1.000 1 2005 2005
dbSNP: rs2074560
rs2074560
MX2
2 0.925 0.040 21 41380411 intron variant A/G snv 0.43 0.010 1.000 1 2014 2014
dbSNP: rs2234591
rs2234591
WT1
2 0.925 0.080 11 32399873 intron variant T/C snv 1.4E-03 0.010 1.000 1 2005 2005
dbSNP: rs2294367
rs2294367
APOBEC3G
1 1.000 22 39083569 intron variant C/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs2301254
rs2301254
WT1 ; WT1-AS
3 0.882 0.160 11 32436129 intron variant A/G snv 0.48 0.010 1.000 1 2005 2005
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: rs3736685
rs3736685
APOBEC3G
1 1.000 22 39081386 intron variant T/C snv 0.14 0.010 1.000 1 2017 2017
dbSNP: rs3869068
rs3869068
ZNRD1ASP
1 0.925 6 30036275 intron variant C/T snv 0.17 0.010 1.000 1 2017 2017
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: rs6001417
rs6001417
APOBEC3G
1 1.000 22 39081372 intron variant C/G snv 0.14 0.010 1.000 1 2016 2016