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: 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: 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: 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: 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: 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: 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: rs633724
rs633724 		1.000 0.040 6 106286165 intron variant C/T snv 0.42
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.700 1.000 1 2019 2019
dbSNP: rs6911490
rs6911490 		1.000 0.040 6 106074152 intron variant T/C snv 0.86
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.800 1.000 1 2011 2011
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: 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: 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: 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: 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: rs2299864
rs2299864 		1.000 0.080 6 106220119 intron variant C/T 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: 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: rs3827644
rs3827644 		0.925 0.080 6 106237320 intron variant G/C snv 0.15
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.800 1.000 1 2013 2013
dbSNP: rs3827644
rs3827644 		0.925 0.080 6 106237320 intron variant G/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 2013 2013
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: 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: rs538557
rs538557 		1.000 0.080 6 106236001 intron variant T/C snv 4.3E-02
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2009 2009
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