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: 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
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: 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: 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: rs498679
rs498679 		1.000 0.040 6 106122200 intron variant T/A;C snv
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2017 2017
dbSNP: rs506027
rs506027 		0.925 0.080 6 106326589 upstream gene variant G/A snv 0.57
CUI: C0036690
Disease: Septicemia
Septicemia 		Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2017 2017
dbSNP: rs506027
rs506027 		0.925 0.080 6 106326589 upstream gene variant G/A snv 0.57
CUI: C0243026
Disease: Sepsis
Sepsis 		Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2017 2017
dbSNP: rs510432
rs510432 		0.752 0.280 6 106326155 upstream gene variant T/C snv 0.57
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2019 2019
dbSNP: rs510432
rs510432 		0.752 0.280 6 106326155 upstream gene variant T/C snv 0.57
CUI: C0036690
Disease: Septicemia
Septicemia 		Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2017 2017
dbSNP: rs510432
rs510432 		0.752 0.280 6 106326155 upstream gene variant T/C snv 0.57
CUI: C0271907
Disease: Acquired aplastic anemia
Acquired aplastic anemia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs510432
rs510432 		0.752 0.280 6 106326155 upstream gene variant T/C snv 0.57
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs510432
rs510432 		0.752 0.280 6 106326155 upstream gene variant T/C snv 0.57
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs510432
rs510432 		0.752 0.280 6 106326155 upstream gene variant T/C snv 0.57
CUI: C0243026
Disease: Sepsis
Sepsis 		Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2017 2017
dbSNP: rs510432
rs510432 		0.752 0.280 6 106326155 upstream gene variant T/C snv 0.57
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs510432
rs510432 		0.752 0.280 6 106326155 upstream gene variant T/C snv 0.57
CUI: C0019189
Disease: Hepatitis, Chronic
Hepatitis, Chronic 		Digestive System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs510432
rs510432 		0.752 0.280 6 106326155 upstream gene variant T/C snv 0.57
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2019 2019
dbSNP: rs510432
rs510432 		0.752 0.280 6 106326155 upstream gene variant T/C snv 0.57
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019