ATG16L1, autophagy related 16 like 1, 55054

N. diseases: 120; N. variants: 31
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: rs13005285
rs13005285 		0.882 0.080 2 233286311 intron variant T/G snv 0.56
CUI: C0031106
Disease: Aggressive Periodontitis
Aggressive Periodontitis 		Stomatognathic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs13005285
rs13005285 		0.882 0.080 2 233286311 intron variant T/G snv 0.56
CUI: C0030246
Disease: Pustulosis of Palms and Soles
Pustulosis of Palms and Soles 		Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs13005285
rs13005285 		0.882 0.080 2 233286311 intron variant T/G snv 0.56
CUI: C0343055
Disease: Generalized pustular psoriasis
Generalized pustular psoriasis 		Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1460966559
rs1460966559 		1.000 0.040 2 233270020 synonymous variant G/A snv 7.0E-06
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1474156473
rs1474156473 		0.925 0.040 2 233293259 synonymous variant T/C snv 7.0E-06
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1474156473
rs1474156473 		0.925 0.040 2 233293259 synonymous variant T/C snv 7.0E-06
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1474156473
rs1474156473 		0.925 0.040 2 233293259 synonymous variant T/C snv 7.0E-06
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs2241877
rs2241877 		1.000 0.040 2 233277843 intron variant A/G snv 0.69
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2241879
rs2241879 		0.882 0.080 2 233274822 intron variant G/A snv 0.45 0.44
CUI: C0031106
Disease: Aggressive Periodontitis
Aggressive Periodontitis 		Stomatognathic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2241879
rs2241879 		0.882 0.080 2 233274822 intron variant G/A snv 0.45 0.44
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2241880
rs2241880 		0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0520459
Disease: Necrotizing Enterocolitis
Necrotizing Enterocolitis 		Digestive System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2241880
rs2241880 		0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0009373
Disease: Colonic Diseases
Colonic Diseases 		Digestive System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs2241880
rs2241880 		0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2241880
rs2241880 		0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2241880
rs2241880 		0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs2241880
rs2241880 		0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0022104
Disease: Irritable Bowel Syndrome
Irritable Bowel Syndrome 		Digestive System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs2241880
rs2241880 		0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2241880
rs2241880 		0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2241880
rs2241880 		0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0031106
Disease: Aggressive Periodontitis
Aggressive Periodontitis 		Stomatognathic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2241880
rs2241880 		0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0151546
Disease: Oral Cavity Carcinoma
Oral Cavity Carcinoma 		Digestive System Diseases; Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2241880
rs2241880 		0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0042029
Disease: Urinary tract infection
Urinary tract infection 		Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2241880
rs2241880 		0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0220650
Disease: Metastatic malignant neoplasm to brain
Metastatic malignant neoplasm to brain 		Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2241880
rs2241880 		0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs2241880
rs2241880 		0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs2241880
rs2241880 		0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016