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: rs6887695
rs6887695 		14 0.732 0.440 5 159395637 intron variant G/C snv 0.35 0.050 1.000 5 2008 2019
dbSNP: rs4112788
rs4112788 		4 0.851 0.120 1 152578800 downstream gene variant A/G;T snv 0.030 0.667 3 2010 2014
dbSNP: rs10865331
rs10865331 		5 0.827 0.120 2 62324337 intergenic variant A/G snv 0.57 0.700 1.000 1 2019 2019
dbSNP: rs10888503
rs10888503 		2 0.925 0.080 1 152621073 downstream gene variant C/T snv 0.59 0.010 1.000 1 2015 2015
dbSNP: rs115145466
rs115145466 		1 1.000 0.080 6 32251264 upstream gene variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs12188300
rs12188300 		6 0.807 0.120 5 159402519 intron variant A/G;T snv 0.800 1.000 1 2010 2010
dbSNP: rs12883343
rs12883343 		2 0.925 0.080 14 35383268 downstream gene variant C/G;T snv 0.47 0.010 1.000 1 2019 2019
dbSNP: rs2621322
rs2621322 		1 1.000 0.080 6 32820935 intron variant T/G snv 0.20 0.700 1.000 1 2019 2019
dbSNP: rs28780111
rs28780111 		1 1.000 0.080 6 30752534 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs4085613
rs4085613 		5 0.827 0.160 1 152577542 downstream gene variant T/G snv 0.59 0.010 1.000 1 2010 2010
dbSNP: rs4683946
rs4683946 		2 0.925 0.080 3 101896982 intron variant G/T snv 0.19 0.700 1.000 1 2015 2015
dbSNP: rs4908742
rs4908742 		2 0.925 0.080 1 8184970 upstream gene variant A/C snv 0.63 0.010 1.000 1 2015 2015
dbSNP: rs9321623
rs9321623 		2 0.925 0.080 6 137637128 regulatory region variant C/T snv 0.43 0.010 1.000 1 2015 2015
dbSNP: rs115872194
rs115872194
BAG6
1 1.000 0.080 6 31639897 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs12044149
rs12044149
C1orf141
2 0.925 0.080 1 67135003 intron variant G/C;T snv 0.710 1.000 1 2015 2015
dbSNP: rs281875214
rs281875214
CARD14
7 0.790 0.160 17 80183976 missense variant A/C snv 0.010 1.000 1 2019 2019
dbSNP: rs281875215
rs281875215
CARD14
6 0.807 0.160 17 80182790 missense variant G/A snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs763361
rs763361
CD226
21 0.689 0.520 18 69864406 missense variant T/A;C snv 4.0E-06; 0.52 0.010 1.000 1 2017 2017
dbSNP: rs12356475
rs12356475
CTNNA3
1 1.000 0.080 10 66001962 intron variant T/C snv 0.15 0.700 1.000 1 2015 2015
dbSNP: rs114212579
rs114212579
CYP21A2 ; SKIV2L
1 1.000 0.080 6 31968280 non coding transcript exon variant G/T snv 0.700 1.000 1 2019 2019
dbSNP: rs149997688
rs149997688
DDR1
1 1.000 0.080 6 30893833 intron variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs30187
rs30187
ERAP1
14 0.732 0.360 5 96788627 missense variant T/A;C snv 0.62 0.010 1.000 1 2016 2016
dbSNP: rs2248374
rs2248374
ERAP1 ; ERAP2
4 0.851 0.120 5 96900192 splice region variant A/G snv 0.55 0.54 0.010 1.000 1 2016 2016
dbSNP: rs27044
rs27044
ERAP1 ; LOC102724748
5 0.827 0.240 5 96783148 missense variant G/C snv 0.69 0.71 0.010 1.000 1 2016 2016
dbSNP: rs200215055
rs200215055
FCGR3B
11 0.742 0.400 1 161626196 missense variant C/A;G;T snv 1.5E-03; 1.2E-05; 4.0E-06 0.010 1.000 1 2012 2012