NPEPPS, aminopeptidase puromycin sensitive, 9520

N. diseases: 12; N. variants: 8
Source: GWASCAT ×
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: rs117952616
rs117952616 		17 47589632 intron variant T/A;C snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs12943464
rs12943464 		0.827 0.120 17 47612985 intron variant A/T snv 0.45
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs12943464
rs12943464 		0.827 0.120 17 47612985 intron variant A/T snv 0.45
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs12943464
rs12943464 		0.827 0.120 17 47612985 intron variant A/T snv 0.45
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs12943464
rs12943464 		0.827 0.120 17 47612985 intron variant A/T snv 0.45
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 1 2016 2016
dbSNP: rs12943464
rs12943464 		0.827 0.120 17 47612985 intron variant A/T snv 0.45
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2935183
rs2935183 		0.925 0.120 17 47530206 intron variant T/G snv 0.51
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs2935183
rs2935183 		0.925 0.120 17 47530206 intron variant T/G snv 0.51
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs35152111
rs35152111 		17 47539158 intron variant CT/- delins 0.14
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2017 2017
dbSNP: rs3865314
rs3865314 		1.000 0.040 17 47592158 intron variant A/C;T snv
CUI: C0011334
Disease: Dental caries
Dental caries 		Stomatognathic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs4793836
rs4793836 		17 47592946 intron variant G/A;C;T snv
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs62073968
rs62073968 		17 47531904 intron variant T/G snv 0.15
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs62074014
rs62074014 		17 47591143 intron variant A/G snv 0.51
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018