Source: GWASCAT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs30187
rs30187
ERAP1
0.732 0.360 5 96788627 missense variant T/A;C snv 0.62
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.900 0.957 2 2009 2020
dbSNP: rs17482078
rs17482078
ERAP1 ; LOC102724748
0.882 0.240 5 96783162 missense variant C/G;T snv 2.8E-05; 0.15
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.820 1.000 1 2013 2019
dbSNP: rs17482078
rs17482078
ERAP1 ; LOC102724748
0.882 0.240 5 96783162 missense variant C/G;T snv 2.8E-05; 0.15
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs27044
rs27044
ERAP1 ; LOC102724748
0.827 0.240 5 96783148 missense variant G/C snv 0.69 0.71
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.710 1.000 1 2015 2017
dbSNP: rs4869313
rs4869313
ERAP1 ; ERAP2
0.724 0.240 5 96888176 intron variant T/A;G snv
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.700 1.000 1 2015 2015
dbSNP: rs4869313
rs4869313
ERAP1 ; ERAP2
0.724 0.240 5 96888176 intron variant T/A;G snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.700 1.000 1 2015 2015
dbSNP: rs4869313
rs4869313
ERAP1 ; ERAP2
0.724 0.240 5 96888176 intron variant T/A;G snv
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.700 1.000 1 2015 2015
dbSNP: rs4869313
rs4869313
ERAP1 ; ERAP2
0.724 0.240 5 96888176 intron variant T/A;G snv
CUI: C0920350
Disease: Autoimmune thyroiditis
Autoimmune thyroiditis 		0.700 1.000 1 2015 2015
dbSNP: rs4869313
rs4869313
ERAP1 ; ERAP2
0.724 0.240 5 96888176 intron variant T/A;G snv
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.700 1.000 1 2015 2015
dbSNP: rs4869313
rs4869313
ERAP1 ; ERAP2
0.724 0.240 5 96888176 intron variant T/A;G snv
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis 		0.700 1.000 1 2015 2015
dbSNP: rs4869313
rs4869313
ERAP1 ; ERAP2
0.724 0.240 5 96888176 intron variant T/A;G snv
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.700 1.000 1 2015 2015
dbSNP: rs4869313
rs4869313
ERAP1 ; ERAP2
0.724 0.240 5 96888176 intron variant T/A;G snv
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		0.700 1.000 1 2015 2015
dbSNP: rs4869313
rs4869313
ERAP1 ; ERAP2
0.724 0.240 5 96888176 intron variant T/A;G snv
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		0.700 1.000 1 2015 2015
dbSNP: rs4869313
rs4869313
ERAP1 ; ERAP2
0.724 0.240 5 96888176 intron variant T/A;G snv
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.700 1.000 1 2015 2015
dbSNP: rs4869313
rs4869313
ERAP1 ; ERAP2
0.724 0.240 5 96888176 intron variant T/A;G snv
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.700 1.000 1 2015 2015
dbSNP: rs4869313
rs4869313
ERAP1 ; ERAP2
0.724 0.240 5 96888176 intron variant T/A;G snv
CUI: C4310768
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 		0.700 1.000 1 2015 2015
dbSNP: rs4869313
rs4869313
ERAP1 ; ERAP2
0.724 0.240 5 96888176 intron variant T/A;G snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.700 1.000 1 2015 2015
dbSNP: rs4869313
rs4869313
ERAP1 ; ERAP2
0.724 0.240 5 96888176 intron variant T/A;G snv
CUI: C3150797
Disease: AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		0.700 1.000 1 2015 2015
dbSNP: rs27524
rs27524
CAST ; ERAP1
0.851 0.160 5 96766240 intron variant A/G snv 0.61
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.800 1.000 2 2010 2015
dbSNP: rs2910686
rs2910686
ERAP1 ; ERAP2
0.827 0.120 5 96916885 intron variant T/C snv 0.42
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.700 1.000 2 2012 2016
dbSNP: rs2910686
rs2910686
ERAP1 ; ERAP2
0.827 0.120 5 96916885 intron variant T/C snv 0.42
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.700 1.000 2 2013 2016
dbSNP: rs2549803
rs2549803
ERAP1
0.827 0.120 5 96839226 intron variant C/T snv 0.27
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2016 2016
dbSNP: rs2549803
rs2549803
ERAP1
0.827 0.120 5 96839226 intron variant C/T snv 0.27
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.700 1.000 1 2016 2016
dbSNP: rs2549803
rs2549803
ERAP1
0.827 0.120 5 96839226 intron variant C/T snv 0.27
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.700 1.000 1 2016 2016
dbSNP: rs2549803
rs2549803
ERAP1
0.827 0.120 5 96839226 intron variant C/T snv 0.27
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.700 1.000 1 2016 2016