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: 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: rs573775
rs573775 		0.851 0.320 6 106316991 intron variant G/A snv 0.34
CUI: C0271907
Disease: Acquired aplastic anemia
Acquired aplastic anemia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs803360
rs803360 		1.000 0.040 6 106318254 intron variant G/A;C snv
CUI: C0271907
Disease: Acquired aplastic anemia
Acquired aplastic anemia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs757085537
rs757085537 		0.851 0.160 6 106105356 missense variant C/T snv 7.0E-06
CUI: C1333296
Disease: Activated B-cell type diffuse large B-cell lymphoma
Activated B-cell type diffuse large B-cell lymphoma 		0.010 1.000 1 2014 2014
dbSNP: rs1312391542
rs1312391542 		0.925 0.120 6 106104897 missense variant G/A;T snv
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large B-Cell Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs9372120
rs9372120 		0.851 0.280 6 106219660 intron variant T/G snv 0.16
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs752612830
rs752612830 		1.000 0.080 6 106316116 synonymous variant T/C snv 8.0E-06 4.9E-05
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 2003 2005
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: 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: rs28701841
rs28701841 		0.827 0.120 6 106082455 intron variant G/A snv 7.6E-02
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 1 2016 2016
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: rs12212740
rs12212740 		1.000 0.080 6 106301433 intron variant G/A snv 8.3E-02
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: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs9372120
rs9372120 		0.851 0.280 6 106219660 intron variant T/G snv 0.16
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs548234
rs548234 		0.763 0.360 6 106120159 intron variant C/T snv 0.76
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs573775
rs573775 		0.851 0.320 6 106316991 intron variant G/A snv 0.34
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015
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: rs9372120
rs9372120 		0.851 0.280 6 106219660 intron variant T/G snv 0.16
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1040411
rs1040411 		1.000 0.120 6 106150148 intron variant G/A snv 0.47
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: C0220644
Disease: Childhood Hodgkin Lymphoma
Childhood Hodgkin Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs28701841
rs28701841 		0.827 0.120 6 106082455 intron variant G/A snv 7.6E-02
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		Digestive System Diseases 0.700 1.000 1 2016 2016
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: 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: rs548234
rs548234 		0.763 0.360 6 106120159 intron variant C/T snv 0.76
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2019 2019
dbSNP: rs28701841
rs28701841 		0.827 0.120 6 106082455 intron variant G/A snv 7.6E-02
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2016 2016