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: rs1332099
rs1332099 		14 0.724 0.240 10 99538694 downstream gene variant T/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs9585056
rs9585056
LOC107984558
1 1.000 0.120 13 99429512 non coding transcript exon variant C/G;T snv 0.710 1.000 2 2010 2015
dbSNP: rs10786436
rs10786436
HPSE2
1 1.000 0.120 10 98540425 intron variant C/T snv 0.40 0.800 1.000 1 2011 2011
dbSNP: rs4900384
rs4900384 		4 0.882 0.160 14 98032614 intergenic variant A/G snv 0.40 0.800 1.000 1 2009 2009
dbSNP: rs1456988
rs1456988 		2 0.925 0.160 14 98021670 intergenic variant G/T snv 0.61 0.700 1.000 1 2015 2015
dbSNP: rs3176792
rs3176792
CD69
1 1.000 0.120 12 9758491 intron variant A/T snv 6.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs4763879
rs4763879
CD69
2 0.925 0.160 12 9757568 intron variant G/A snv 0.28 0.800 1.000 1 2009 2009
dbSNP: rs917911
rs917911
CD69
1 1.000 0.120 12 9753255 3 prime UTR variant A/C snv 0.29 0.700 1.000 1 2015 2015
dbSNP: rs10492166
rs10492166
CLECL1
1 1.000 0.120 12 9733403 upstream gene variant G/A snv 0.50 0.700 1.000 1 2011 2011
dbSNP: rs11052552
rs11052552
LINC02390
1 1.000 0.120 12 9703362 upstream gene variant T/G snv 0.42 0.800 1.000 1 2007 2007
dbSNP: rs16919034
rs16919034
CTSV
1 1.000 0.120 9 97031301 3 prime UTR variant A/G snv 0.28 0.010 1.000 1 2007 2007
dbSNP: rs2762
rs2762
LNPEP ; ERAP1
1 1.000 0.120 5 96937594 non coding transcript exon variant C/T snv 0.41 0.010 < 0.001 1 2007 2007
dbSNP: rs4869313
rs4869313
ERAP1 ; ERAP2
14 0.724 0.240 5 96888176 intron variant T/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs3764021
rs3764021
CLEC2D
1 1.000 0.120 12 9681032 splice region variant C/T snv 0.46 0.50 0.800 1.000 1 2007 2007
dbSNP: rs1326934
rs1326934
SORBS1
2 0.925 0.200 10 95524324 intron variant C/T snv 0.63 0.700 1.000 1 2015 2015
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.020 1.000 2 2008 2017
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2017 2017
dbSNP: rs8007115
rs8007115 		1 1.000 0.120 14 94871151 intergenic variant T/C snv 0.80 0.700 1.000 1 2010 2010
dbSNP: rs11160219
rs11160219 		1 1.000 0.120 14 94869154 regulatory region variant A/G snv 0.75 0.700 1.000 1 2010 2010
dbSNP: rs11624318
rs11624318 		1 1.000 0.120 14 94839675 intergenic variant C/A snv 0.15 0.700 1.000 1 2010 2010
dbSNP: rs754246590
rs754246590
SERPINA3
1 1.000 0.120 14 94614689 missense variant C/T snv 1.2E-05 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs10255021
rs10255021
COL1A2
1 1.000 0.120 7 94402493 intron variant G/A snv 0.13 0.700 1.000 1 2007 2007
dbSNP: rs1460874866
rs1460874866
SERPINA1
1 1.000 0.120 14 94382987 missense variant G/A snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs597325
rs597325
BACH2
2 0.925 0.160 6 90292775 intron variant A/G snv 0.69 0.700 1.000 1 2011 2011
dbSNP: rs72928038
rs72928038
BACH2
19 0.695 0.360 6 90267049 intron variant G/A snv 0.11 0.700 1.000 1 2015 2015