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: rs27434
rs27434
ERAP1
1.000 0.040 5 96793809 synonymous variant A/G;T snv 0.72; 1.2E-05
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.890 1.000 1 2009 2018
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: rs1363907
rs1363907
ERAP1 ; ERAP2
1.000 0.040 5 96917099 intron variant G/A snv 0.38
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.800 1.000 3 2012 2017
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: rs2549794
rs2549794
ERAP1 ; ERAP2
1.000 0.040 5 96908845 intron variant C/T snv 0.62
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.800 1.000 1 2010 2010
dbSNP: rs27432
rs27432
ERAP1 ; LOC102724748
0.925 0.040 5 96783569 intron variant A/C;G snv
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.800 1.000 1 2012 2012
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: rs27529
rs27529
ERAP1
1.000 0.040 5 96790605 missense variant A/G;T snv 0.62
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.710 1.000 1 2011 2019
dbSNP: rs1363907
rs1363907
ERAP1 ; ERAP2
1.000 0.040 5 96917099 intron variant G/A snv 0.38
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.700 1.000 2 2015 2017
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: rs709668
rs709668
ERAP1
5 96838483 intron variant A/G snv 0.71
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 2 2018 2019
dbSNP: rs10045403
rs10045403
ERAP1
0.882 0.040 5 96812030 upstream gene variant A/G snv 0.23
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.700 1.000 1 2013 2013
dbSNP: rs10045403
rs10045403
ERAP1
0.882 0.040 5 96812030 upstream gene variant A/G snv 0.23
CUI: C4255374
Disease: Frontal fibrosing alopecia
Frontal fibrosing alopecia 		0.700 1.000 1 2019 2019
dbSNP: rs10045403
rs10045403
ERAP1
0.882 0.040 5 96812030 upstream gene variant A/G snv 0.23
CUI: C1274700
Disease: Postmenopausal frontal fibrosing alopecia
Postmenopausal frontal fibrosing alopecia 		0.700 1.000 1 2019 2019
dbSNP: rs11455840
rs11455840
ERAP1 ; ERAP2
5 96910265 non coding transcript exon variant AA/-;A;AAA;AAAA;AAAAA;AAAAAAAAAAA delins
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs17408150
rs17408150
ERAP1 ; ERAP2
5 96903554 missense variant T/A snv 4.0E-02 3.8E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
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: rs2013717
rs2013717
ERAP1
5 96798472 intron variant T/G snv 0.16
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs202110856
rs202110856
ERAP1
0.790 0.080 5 96794169 intron variant -/C delins 2.1E-05
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 1 2015 2015
dbSNP: rs202110856
rs202110856
ERAP1
0.790 0.080 5 96794169 intron variant -/C delins 2.1E-05
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 1.000 1 2015 2015
dbSNP: rs202110856
rs202110856
ERAP1
0.790 0.080 5 96794169 intron variant -/C delins 2.1E-05
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		0.700 1.000 1 2015 2015
dbSNP: rs202110856
rs202110856
ERAP1
0.790 0.080 5 96794169 intron variant -/C delins 2.1E-05
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 1 2015 2015
dbSNP: rs202110856
rs202110856
ERAP1
0.790 0.080 5 96794169 intron variant -/C delins 2.1E-05
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2015 2015