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: rs11190141
rs11190141
NKX2-3 ; LINC01475
3 1.000 0.040 10 99532633 upstream gene variant C/T snv 0.40 0.800 1.000 1 2012 2012
dbSNP: rs11190140
rs11190140
NKX2-3 ; LINC01475
6 0.827 0.160 10 99531836 upstream gene variant T/C snv 0.55 0.810 1.000 2 2008 2014
dbSNP: rs10883365
rs10883365
LINC01475
3 0.882 0.080 10 99528007 non coding transcript exon variant G/A snv 0.52 0.830 1.000 5 2007 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 0.820 1.000 5 2010 2019
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: rs71485777
rs71485777 		1 1.000 0.040 10 99523571 upstream gene variant CCC/GCA mnv 0.700 1.000 1 2015 2015
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: rs9297145
rs9297145
KPNA7
6 0.827 0.120 7 99161494 intergenic variant C/A snv 0.67 0.700 1.000 2 2015 2016
dbSNP: rs746482334
rs746482334
APAF1 ; ANKS1B
1 1.000 0.040 12 98732507 missense variant A/G snv 4.0E-06 0.010 < 0.001 1 2003 2003
dbSNP: rs2297322
rs2297322
SLC15A1
4 1.000 0.040 13 98723927 missense variant C/G;T snv 0.22 0.010 1.000 1 2009 2009
dbSNP: rs1476273292
rs1476273292
APAF1
1 1.000 0.040 12 98712328 missense variant G/A snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs13420683
rs13420683
ZAP70
1 1.000 0.040 2 97719889 intron variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1363907
rs1363907
ERAP1 ; ERAP2
2 1.000 0.040 5 96917099 intron variant G/A snv 0.38 0.700 1.000 2 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: rs1437138510
rs1437138510
ERAP1 ; ERAP2
1 1.000 0.040 5 96909646 missense variant T/C snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs2549794
rs2549794
ERAP1 ; ERAP2
1 1.000 0.040 5 96908845 intron variant C/T snv 0.62 0.800 1.000 1 2010 2010
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 2017 2017
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: rs30187
rs30187
ERAP1
14 0.732 0.360 5 96788627 missense variant T/A;C snv 0.62 0.010 1.000 1 2012 2012