ATG5, autophagy related 5, 9474

N. diseases: 282; N. variants: 36
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: rs6568431
rs6568431 		0.790 0.320 6 106140931 intron variant A/C snv 0.61
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.800 1.000 5 2008 2017
dbSNP: rs4946728
rs4946728 		1.000 0.120 6 106142488 intron variant A/C snv 0.72
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs4946728
rs4946728 		1.000 0.120 6 106142488 intron variant A/C snv 0.72
CUI: C0220644
Disease: Childhood Hodgkin Lymphoma
Childhood Hodgkin Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs4946728
rs4946728 		1.000 0.120 6 106142488 intron variant A/C snv 0.72
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs6568431
rs6568431 		0.790 0.320 6 106140931 intron variant A/C snv 0.61
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs6568431
rs6568431 		0.790 0.320 6 106140931 intron variant A/C snv 0.61
CUI: C0002871
Disease: Anemia
Anemia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs6568431
rs6568431 		0.790 0.320 6 106140931 intron variant A/C snv 0.61
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs6568431
rs6568431 		0.790 0.320 6 106140931 intron variant A/C snv 0.61
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs6568431
rs6568431 		0.790 0.320 6 106140931 intron variant A/C snv 0.61
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs6568431
rs6568431 		0.790 0.320 6 106140931 intron variant A/C snv 0.61
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2019 2019
dbSNP: rs473543
rs473543 		0.925 0.080 6 106327811 upstream gene variant A/C;G snv
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs473543
rs473543 		0.925 0.080 6 106327811 upstream gene variant A/C;G snv
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3804329
rs3804329 		1.000 0.080 6 106238552 intron variant A/G snv 0.15
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs3804329
rs3804329 		1.000 0.080 6 106238552 intron variant A/G snv 0.15
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs4134466
rs4134466 		1.000 0.040 6 106129493 intron variant A/G snv 0.70
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs671116
rs671116 		1.000 0.080 6 106312722 intron variant A/G snv 0.41
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs9373834
rs9373834 		6 106129819 intron variant A/T snv 0.36
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs12201458
rs12201458 		1.000 0.080 6 106194812 intron variant C/A snv 7.7E-02
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs3804333
rs3804333 		6 106279340 intron variant C/A;T snv
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs2245214
rs2245214 		0.827 0.240 6 106214866 intron variant C/G snv 0.42
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2245214
rs2245214 		0.827 0.240 6 106214866 intron variant C/G snv 0.42
CUI: C0002871
Disease: Anemia
Anemia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2245214
rs2245214 		0.827 0.240 6 106214866 intron variant C/G snv 0.42
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs2245214
rs2245214 		0.827 0.240 6 106214866 intron variant C/G snv 0.42
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans 		Musculoskeletal Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2245214
rs2245214 		0.827 0.240 6 106214866 intron variant C/G snv 0.42
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2245214
rs2245214 		0.827 0.240 6 106214866 intron variant C/G snv 0.42
CUI: C1443892
Disease: Chronic Q Fever
Chronic Q Fever 		Infections 0.010 1.000 1 2019 2019