TAPBP, TAP binding protein, 6892

N. diseases: 86; N. variants: 9
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: rs3130100
rs3130100 		1.000 0.120 6 33315989 missense variant T/C snv 0.54 0.54
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 3 2007 2011
dbSNP: rs1059288
rs1059288 		0.882 0.320 6 33299895 3 prime UTR variant A/G snv 0.60
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs144706539
rs144706539 		6 33304176 synonymous variant G/A snv 1.2E-02 1.2E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2071888
rs2071888 		0.882 0.320 6 33305078 missense variant G/C snv 0.56 0.60
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs3106189
rs3106189 		0.925 0.200 6 33314225 5 prime UTR variant C/T snv 0.52
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs3106190
rs3106190 		1.000 0.120 6 33312852 intron variant C/G snv 0.54
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs3135408
rs3135408 		1.000 0.120 6 33307236 intron variant T/C snv 0.60
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs9277972
rs9277972 		6 33308993 intron variant A/C;T snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs1059288
rs1059288 		0.882 0.320 6 33299895 3 prime UTR variant A/G snv 0.60
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1059288
rs1059288 		0.882 0.320 6 33299895 3 prime UTR variant A/G snv 0.60
CUI: C3853540
Disease: Aspirin exacerbated respiratory disease
Aspirin exacerbated respiratory disease 		Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases; Immune System Diseases; Chemically-Induced Disorders; Otorhinolaryngologic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2071888
rs2071888 		0.882 0.320 6 33305078 missense variant G/C snv 0.56 0.60
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2071888
rs2071888 		0.882 0.320 6 33305078 missense variant G/C snv 0.56 0.60
CUI: C3853540
Disease: Aspirin exacerbated respiratory disease
Aspirin exacerbated respiratory disease 		Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases; Immune System Diseases; Chemically-Induced Disorders; Otorhinolaryngologic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2282851
rs2282851 		1.000 0.080 6 33312532 intron variant C/T snv 0.23
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2013 2013
dbSNP: rs3106189
rs3106189 		0.925 0.200 6 33314225 5 prime UTR variant C/T snv 0.52
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013