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: rs888208
rs888208
NKX2-3
3 0.882 0.080 10 99536106 3 prime UTR variant A/G snv 0.25 0.010 1.000 1 2011 2011
dbSNP: rs11190140
rs11190140
NKX2-3 ; LINC01475
6 0.827 0.160 10 99531836 upstream gene variant T/C snv 0.55 0.800 1.000 1 2010 2010
dbSNP: rs6584283
rs6584283
LINC01475
12 0.776 0.080 10 99530544 intron variant T/C snv 0.56 0.800 1.000 2 2009 2011
dbSNP: rs10883365
rs10883365
LINC01475
3 0.882 0.080 10 99528007 non coding transcript exon variant G/A snv 0.52 0.030 1.000 3 2010 2014
dbSNP: rs11596008
rs11596008
LINC01475
2 0.925 0.040 10 99527557 intron variant C/T snv 0.29 0.010 1.000 1 2011 2011
dbSNP: rs4409764
rs4409764 		3 0.925 0.040 10 99524480 upstream gene variant T/A;G snv 0.700 1.000 2 2015 2017
dbSNP: rs10748781
rs10748781 		11 0.763 0.160 10 99523573 upstream gene variant C/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs11190133
rs11190133 		5 0.827 0.120 10 99518968 intergenic variant C/T snv 0.26 0.700 1.000 1 2016 2016
dbSNP: rs9554587
rs9554587 		5 0.827 0.120 13 99388400 downstream gene variant A/G snv 0.17 0.700 1.000 1 2016 2016
dbSNP: rs3742130
rs3742130
GPR18 ; UBAC2
3 0.925 0.040 13 99255087 synonymous variant G/A snv 0.16 0.16 0.700 1.000 1 2015 2015
dbSNP: rs7809799
rs7809799
KPNA7
2 0.925 0.120 7 99162881 regulatory region variant G/A;T snv 0.800 1.000 1 2010 2010
dbSNP: rs9297145
rs9297145
KPNA7
6 0.827 0.120 7 99161494 intergenic variant C/A snv 0.67 0.700 1.000 3 2015 2017
dbSNP: rs2910686
rs2910686
ERAP1 ; ERAP2
5 0.827 0.120 5 96916885 intron variant T/C snv 0.42 0.700 1.000 1 2016 2016
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: rs2549803
rs2549803
ERAP1
5 0.827 0.120 5 96839226 intron variant C/T snv 0.27 0.700 1.000 1 2016 2016
dbSNP: rs469758
rs469758
ERAP1 ; LOC102724748
5 0.827 0.120 5 96786011 intron variant C/T snv 0.62 0.63 0.700 1.000 1 2016 2016
dbSNP: rs483905
rs483905
MAML2
2 1.000 0.040 11 96290263 intron variant G/A snv 0.26 0.800 1.000 3 2012 2017
dbSNP: rs2497318
rs2497318 		6 0.827 0.120 10 92672243 upstream gene variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs2666218
rs2666218
ASAP2
5 0.827 0.120 2 9262859 intron variant A/G snv 0.32 0.700 1.000 1 2016 2016
dbSNP: rs4743820
rs4743820
LINC00484 ; LOC100507103
2 1.000 0.040 9 91166134 non coding transcript exon variant C/T snv 0.61 0.700 1.000 1 2015 2015
dbSNP: rs72928038
rs72928038
BACH2
19 0.695 0.360 6 90267049 intron variant G/A snv 0.11 0.700 1.000 1 2016 2016
dbSNP: rs1847472
rs1847472
BACH2
7 0.807 0.200 6 90263440 intron variant C/A snv 0.25 0.700 1.000 1 2016 2016
dbSNP: rs10094579
rs10094579 		6 0.807 0.280 8 89837077 downstream gene variant C/A snv 0.18 0.700 1.000 1 2016 2016
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
32 0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54 0.700 1.000 1 2016 2016