LNPEP, leucyl and cystinyl aminopeptidase, 4012

N. diseases: 174; N. variants: 13
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs7705093
rs7705093 		1.000 5 96954943 intron variant C/T snv 0.41
CUI: C1853959
Disease: Birdshot chorioretinopathy
Birdshot chorioretinopathy 		0.800 1.000 1 2014 2014
dbSNP: rs11343706
rs11343706 		5 96994466 intron variant TT/-;T;TTT delins
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs27293
rs27293 		0.807 0.120 5 97021474 intron variant A/G;T snv
CUI: C0087031
Disease: Juvenile-Onset Still Disease
Juvenile-Onset Still Disease 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs27293
rs27293 		0.807 0.120 5 97021474 intron variant A/G;T snv
CUI: C3898105
Disease: Oligoarticular Juvenile Idiopathic Arthritis
Oligoarticular Juvenile Idiopathic Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs27293
rs27293 		0.807 0.120 5 97021474 intron variant A/G;T snv
CUI: C3890205
Disease: Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative
Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs27293
rs27293 		0.807 0.120 5 97021474 intron variant A/G;T snv
CUI: C1858558
Disease: Rheumatoid Arthritis, Systemic Juvenile
Rheumatoid Arthritis, Systemic Juvenile 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs27293
rs27293 		0.807 0.120 5 97021474 intron variant A/G;T snv
CUI: C1384600
Disease: Systemic onset juvenile chronic arthritis
Systemic onset juvenile chronic arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs27293
rs27293 		0.807 0.120 5 97021474 intron variant A/G;T snv
CUI: C2931171
Disease: Juvenile pauciarticular chronic arthritis
Juvenile pauciarticular chronic arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs38033
rs38033 		5 96986432 intron variant A/G snv 0.41
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs3909451
rs3909451 		5 96959417 intron variant G/T snv 0.40
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2012 2012
dbSNP: rs10044354
rs10044354 		1.000 0.040 5 96984791 intron variant C/T snv 0.41
CUI: C0042164
Disease: Uveitis
Uveitis 		Eye Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1281032650
rs1281032650 		5 96979168 missense variant A/G snv
CUI: C0023895
Disease: Liver diseases
Liver diseases 		Digestive System Diseases 0.010 1.000 1 2020 2020
dbSNP: rs1373040226
rs1373040226 		1.000 0.040 5 97027769 frameshift variant -/G delins
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1425322249
rs1425322249 		1.000 0.120 5 96979369 missense variant G/A snv
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2303138
rs2303138 		1.000 0.040 5 97015006 missense variant G/A snv 0.13 9.4E-02
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2762
rs2762 		1.000 0.120 5 96937594 non coding transcript exon variant C/T snv 0.41
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 < 0.001 1 2007 2007
dbSNP: rs371928156
rs371928156 		1.000 0.040 5 96998084 missense variant C/T snv
CUI: C0206526
Disease: Tuberculosis, Multidrug-Resistant
Tuberculosis, Multidrug-Resistant 		Infections 0.010 1.000 1 2018 2018
dbSNP: rs4869317
rs4869317 		1.000 0.040 5 96956300 intron variant T/A snv 0.22
CUI: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs4869317
rs4869317 		1.000 0.040 5 96956300 intron variant T/A snv 0.22
CUI: C0013473
Disease: Eating Disorders
Eating Disorders 		Mental Disorders 0.010 1.000 1 2019 2019