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: rs8177832
rs8177832
APOBEC3G
5 0.851 0.160 22 39081561 missense variant A/G snv 5.9E-02 0.14 0.040 1.000 4 2008 2018
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: rs2294367
rs2294367
APOBEC3G
1 1.000 22 39083569 intron variant C/A;G snv 0.010 1.000 1 2017 2017
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: rs6001417
rs6001417
APOBEC3G
1 1.000 22 39081372 intron variant C/G snv 0.14 0.010 1.000 1 2016 2016
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: rs61550741
rs61550741
TIAM1
5 0.925 21 31133966 intron variant A/G snv 0.12 0.700 1.000 1 2015 2015
dbSNP: rs1291142
rs1291142
SAMHD1
1 1.000 20 36896959 intron variant A/G;T snv 0.010 < 0.001 1 2012 2012
dbSNP: rs73084982
rs73084982
LOC105372508
6 0.882 0.080 20 3430406 intergenic variant G/A snv 3.5E-02 0.700 1.000 1 2016 2016
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: rs12460243
rs12460243
FBN3
5 0.925 19 8066356 intron variant G/A snv 0.14 0.700 1.000 1 2017 2017
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: 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: 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: rs35467001
rs35467001
SDK2
6 0.882 0.080 17 73383923 missense variant G/A snv 5.3E-02 6.3E-02 0.700 1.000 1 2016 2016
dbSNP: rs766662990
rs766662990
CCL5 ; LOC105371744
4 0.851 0.120 17 35878529 missense variant C/T snv 1.6E-05 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs11649112
rs11649112
SHISA9 ; LOC107984137
5 0.925 16 13267554 intron variant G/A snv 0.22 0.700 1.000 1 2015 2015
dbSNP: rs30388
rs30388
MAF
5 0.925 16 79580219 regulatory region variant T/C;G snv 0.700 1.000 1 2015 2015
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
dbSNP: rs2229116
rs2229116
RYR3
9 0.827 0.080 15 33613209 missense variant A/G snv 0.23 0.21 0.700 1.000 1 2010 2010
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: rs11157436
rs11157436
TRAV30
7 0.851 0.040 14 22168978 synonymous variant C/T snv 0.19 0.700 1.000 1 2017 2017