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: rs802791
rs802791 		0.851 0.160 6 106121395 intron variant T/C snv 0.75
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
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: 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: 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: rs9372120
rs9372120 		0.851 0.280 6 106219660 intron variant T/G snv 0.16
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2016 2016
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: rs9373839
rs9373839 		0.882 0.080 6 106207742 intron variant T/C snv 0.15
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.700 1.000 1 2014 2014
dbSNP: rs9373839
rs9373839 		0.882 0.080 6 106207742 intron variant T/C snv 0.15
CUI: C0748540
Disease: Scleroderma, Limited
Scleroderma, Limited 		Skin and Connective Tissue Diseases 0.700 1.000 1 2014 2014
dbSNP: rs9373839
rs9373839 		0.882 0.080 6 106207742 intron variant T/C snv 0.15
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1131692265
rs1131692265 		1.000 6 106279773 missense variant T/A snv
CUI: C4539808
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25 		0.700 0
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: rs1010273
rs1010273 		0.882 0.120 6 106107150 synonymous variant G/A snv 9.7E-02 7.7E-02
CUI: C1333977
Disease: Hepatitis B Virus-Related Hepatocellular Carcinoma
Hepatitis B Virus-Related Hepatocellular Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs1010273
rs1010273 		0.882 0.120 6 106107150 synonymous variant G/A snv 9.7E-02 7.7E-02
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2019 2019
dbSNP: rs1010273
rs1010273 		0.882 0.120 6 106107150 synonymous variant G/A snv 9.7E-02 7.7E-02
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1040411
rs1040411 		1.000 0.120 6 106150148 intron variant G/A snv 0.47
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1040411
rs1040411 		1.000 0.120 6 106150148 intron variant G/A snv 0.47
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2014 2014
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: 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: 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: rs1312391542
rs1312391542 		0.925 0.120 6 106104897 missense variant G/A;T snv
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1322178
rs1322178 		1.000 0.080 6 106183905 intron variant C/T 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: rs1372169495
rs1372169495 		1.000 6 106086585 missense variant G/A;C snv 6.3E-06; 6.3E-06
CUI: C0349636
Disease: Pre B-cell acute lymphoblastic leukemia
Pre B-cell acute lymphoblastic leukemia 		0.010 1.000 1 2014 2014
dbSNP: rs2185379
rs2185379 		1.000 0.080 6 106088378 missense variant G/A snv 3.8E-02 4.5E-02
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 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