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: 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 2 2013 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: rs9297145
rs9297145
KPNA7
6 0.827 0.120 7 99161494 intergenic variant C/A snv 0.67 0.700 1.000 1 2016 2016
dbSNP: rs2910686
rs2910686
ERAP1 ; ERAP2
5 0.827 0.120 5 96916885 intron variant T/C snv 0.42 0.700 1.000 2 2013 2016
dbSNP: rs2248374
rs2248374
ERAP1 ; ERAP2
4 0.851 0.120 5 96900192 splice region variant A/G snv 0.55 0.54 0.030 1.000 3 2015 2019
dbSNP: rs2549782
rs2549782
ERAP1 ; ERAP2
1 1.000 0.040 5 96895296 missense variant G/T 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: rs75862629
rs75862629
ERAP1 ; ERAP2
1 1.000 0.040 5 96875556 intron variant A/G snv 8.8E-02 0.010 1.000 1 2019 2019
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: rs10045403
rs10045403
ERAP1
3 0.882 0.040 5 96812030 upstream gene variant A/G snv 0.23 0.700 1.000 1 2013 2013
dbSNP: rs26653
rs26653
ERAP1
4 0.882 0.080 5 96803547 missense variant C/A;G;T snv 0.64; 8.0E-06; 9.1E-04 0.030 1.000 3 2013 2016
dbSNP: rs2287987
rs2287987
ERAP1
3 0.882 0.120 5 96793832 missense variant T/C snv 0.15 0.16 0.070 1.000 7 2010 2020
dbSNP: rs27434
rs27434
ERAP1
1 1.000 0.040 5 96793809 synonymous variant A/G;T snv 0.72; 1.2E-05 0.890 1.000 10 2009 2018
dbSNP: rs27529
rs27529
ERAP1
1 1.000 0.040 5 96790605 missense variant A/G;T snv 0.62 0.710 1.000 2 2011 2019
dbSNP: rs27710
rs27710
ERAP1
1 1.000 0.040 5 96790494 intron variant A/G snv 0.62 0.63 0.700 1.000 1 2011 2011
dbSNP: rs13170045
rs13170045
ERAP1
1 1.000 0.040 5 96790082 intron variant G/T snv 0.16 0.700 1.000 1 2011 2011
dbSNP: rs30187
rs30187
ERAP1
14 0.732 0.360 5 96788627 missense variant T/A;C snv 0.62 0.900 0.957 23 2009 2020
dbSNP: rs10050860
rs10050860
ERAP1
4 0.882 0.240 5 96786506 missense variant C/T snv 0.15 0.16 0.790 0.900 10 2010 2019
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: rs469876
rs469876
ERAP1 ; LOC102724748
1 1.000 0.040 5 96785702 non coding transcript exon variant A/G snv 0.22 0.020 0.500 2 2012 2018
dbSNP: rs17482078
rs17482078
ERAP1 ; LOC102724748
4 0.882 0.240 5 96783162 missense variant C/G;T snv 2.8E-05; 0.15 0.040 1.000 4 2011 2015
dbSNP: rs27044
rs27044
ERAP1 ; LOC102724748
5 0.827 0.240 5 96783148 missense variant G/C snv 0.69 0.71 0.100 1.000 16 2009 2019
dbSNP: rs27038
rs27038
CAST ; ERAP1 ; LOC102724748
1 1.000 0.040 5 96777250 intron variant A/G snv 0.82 0.020 1.000 2 2011 2019