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: rs11038628
rs11038628
TRIM5
1 1.000 11 5667710 missense variant C/T snv 0.14 0.14 0.020 1.000 2 2013 2019
dbSNP: rs10415893
rs10415893 		1 1.000 19 17401603 upstream gene variant G/A snv 0.18 0.010 1.000 1 2013 2013
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: 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: rs3736685
rs3736685
APOBEC3G
1 1.000 22 39081386 intron variant T/C snv 0.14 0.010 1.000 1 2017 2017
dbSNP: rs541069027
rs541069027
CCR5 ; CCR5AS
1 1.000 3 46373290 missense variant G/A snv 1.8E-04 4.2E-05 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
dbSNP: rs6996198
rs6996198 		1 1.000 8 64550885 downstream gene variant C/T snv 0.18 0.010 1.000 1 2012 2012
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: rs749701046
rs749701046
DNAH8
1 1.000 6 38723032 missense variant G/A snv 4.1E-06 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: 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: rs1047552
rs1047552
APH1B
2 0.925 0.080 15 63305658 missense variant T/A;G snv 6.1E-02 4.7E-02 0.010 1.000 1 2009 2009