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: rs2083575
rs2083575 		2 233236434 intron variant T/C snv 6.3E-02
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.700 1.000 1 2009 2009
dbSNP: rs2083575
rs2083575 		2 233236434 intron variant T/C snv 6.3E-02
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result 		0.700 1.000 1 2009 2009
dbSNP: rs2119503
rs2119503 		2 233257131 intron variant G/A snv 0.18
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.700 1.000 1 2019 2019
dbSNP: rs2289473
rs2289473 		2 233273379 non coding transcript exon variant C/A;G;T snv
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result 		0.700 1.000 1 2009 2009
dbSNP: rs2289473
rs2289473 		2 233273379 non coding transcript exon variant C/A;G;T snv
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.700 1.000 1 2009 2009
dbSNP: rs7587051
rs7587051 		2 233286109 intron variant G/C snv 0.58
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.700 1.000 1 2009 2009
dbSNP: rs7587051
rs7587051 		2 233286109 intron variant G/C snv 0.58
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result 		0.700 1.000 1 2009 2009
dbSNP: rs78835907
rs78835907 		2 233210531 5 prime UTR variant G/A snv 5.1E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs2241880
rs2241880 		0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.900 0.961 51 2007 2020
dbSNP: rs2241880
rs2241880 		0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.100 0.833 12 2007 2019
dbSNP: rs2241880
rs2241880 		0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C1970207
Disease: Inflammatory Bowel Disease 10
Inflammatory Bowel Disease 10 		Digestive System Diseases 0.700 1.000 11 2007 2016
dbSNP: rs2241880
rs2241880 		0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.070 1.000 7 2007 2020
dbSNP: rs2241880
rs2241880 		0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2014 2016
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