IL7R, interleukin 7 receptor, 3575

N. diseases: 231; N. variants: 41
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: rs11567685
rs11567685 		1.000 0.080 5 35856473 5 prime UTR variant T/C snv 0.26
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.020 < 0.001 2 2014 2017
dbSNP: rs11567686
rs11567686 		1.000 0.080 5 35856528 5 prime UTR variant G/A snv 0.72
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs10624573
rs10624573 		5 35857481 intron variant -/AGAAG delins 0.41
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs11567694
rs11567694 		5 35857602 intron variant A/G snv 0.25
CUI: C0035242
Disease: Respiratory Tract Diseases
Respiratory Tract Diseases 		Respiratory Tract Diseases 0.700 1.000 1 2019 2019
dbSNP: rs10213865
rs10213865 		0.827 0.120 5 35857748 intron variant A/C;T snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs10213865
rs10213865 		0.827 0.120 5 35857748 intron variant A/C;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs10213865
rs10213865 		0.827 0.120 5 35857748 intron variant A/C;T snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs10213865
rs10213865 		0.827 0.120 5 35857748 intron variant A/C;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs10213865
rs10213865 		0.827 0.120 5 35857748 intron variant A/C;T snv
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs200803157
rs200803157 		1.000 0.120 5 35860851 splice acceptor variant G/A snv 7.0E-06
CUI: C1837028
Disease: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 1.000 2 2011 2015
dbSNP: rs140673282
rs140673282 		1.000 0.080 5 35860866 missense variant G/A snv 1.2E-05 2.1E-05
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs200044623
rs200044623 		1.000 0.120 5 35860992 splice donor variant T/G snv 4.0E-05 2.1E-05
CUI: C1837028
Disease: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 0
dbSNP: rs969129
rs969129 		0.851 0.200 5 35861166 intron variant T/A;G snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs969129
rs969129 		0.851 0.200 5 35861166 intron variant T/A;G snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs969129
rs969129 		0.851 0.200 5 35861166 intron variant T/A;G snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs969129
rs969129 		0.851 0.200 5 35861166 intron variant T/A;G snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs7717955
rs7717955 		0.925 0.200 5 35862739 intron variant C/T snv 0.23
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs7717955
rs7717955 		0.925 0.200 5 35862739 intron variant C/T snv 0.23
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2018 2018
dbSNP: rs7717955
rs7717955 		0.925 0.200 5 35862739 intron variant C/T snv 0.23
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs118137916
rs118137916 		0.882 0.080 5 35863436 intron variant A/C;G snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs118137916
rs118137916 		0.882 0.080 5 35863436 intron variant A/C;G snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs118137916
rs118137916 		0.882 0.080 5 35863436 intron variant A/C;G snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs6451229
rs6451229 		5 35866116 intron variant A/G;T snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs193922640
rs193922640 		1.000 0.120 5 35867354 frameshift variant -/ATATATTTCA delins
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 0
dbSNP: rs1554066684
rs1554066684 		1.000 0.120 5 35867372 frameshift variant GAAA/- delins
CUI: C1837028
Disease: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 0