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 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: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.010 1.000 1 2019 2019
dbSNP: rs9513593
rs9513593
GPR183 ; UBAC2
1 1.000 0.040 13 99298006 intron variant G/A snv 0.71 0.700 1.000 1 2017 2017
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: rs142903734
rs142903734
LOC107987207
1 1.000 0.040 14 98202442 intron variant GA/-;GAGA delins 0.700 1.000 1 2017 2017
dbSNP: rs6056869
rs6056869
PAK5
1 1.000 0.040 20 9781800 intron variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs2303138
rs2303138
LNPEP
1 1.000 0.040 5 97015006 missense variant G/A snv 0.13 9.4E-02 0.010 1.000 1 2014 2014
dbSNP: rs2910686
rs2910686
ERAP1 ; ERAP2
5 0.827 0.120 5 96916885 intron variant T/C snv 0.42 0.700 1.000 2 2012 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: rs151823
rs151823
ERAP1
1 1.000 0.040 5 96824289 intron variant A/C snv 0.90 0.700 1.000 1 2010 2010
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 0.020 0.500 2 2013 2018
dbSNP: rs30187
rs30187
ERAP1
14 0.732 0.360 5 96788627 missense variant T/A;C snv 0.62 0.010 1.000 1 2017 2017
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: rs39841
rs39841
ERAP1 ; LOC102724748
1 1.000 0.040 5 96784466 intron variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs27432
rs27432
ERAP1 ; LOC102724748
2 0.925 0.040 5 96783569 intron variant A/C;G snv 0.800 1.000 1 2012 2012
dbSNP: rs27044
rs27044
ERAP1 ; LOC102724748
5 0.827 0.240 5 96783148 missense variant G/C snv 0.69 0.71 0.710 1.000 2 2015 2017
dbSNP: rs27524
rs27524
CAST ; ERAP1
4 0.851 0.160 5 96766240 intron variant A/G snv 0.61 0.800 1.000 2 2010 2015
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2019 2019
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 2019 2019
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