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: 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: 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: rs35300242
rs35300242 		0.827 0.120 2 233260144 intron variant G/A;C snv
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 1 2016 2016
dbSNP: rs36001488
rs36001488 		0.724 0.240 2 233276621 intron variant C/T snv 0.44
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 1 2015 2015
dbSNP: rs4663421
rs4663421 		0.882 0.080 2 233293054 intron variant G/C snv 7.8E-02
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.010 1.000 1 2018 2018
dbSNP: rs6758317
rs6758317 		1.000 0.040 2 233260305 intron variant C/T snv 0.24
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3828309
rs3828309 		0.882 0.160 2 233271764 intron variant A/G snv 0.42
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs36001488
rs36001488 		0.724 0.240 2 233276621 intron variant C/T snv 0.44
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.700 1.000 1 2015 2015
dbSNP: rs36001488
rs36001488 		0.724 0.240 2 233276621 intron variant C/T snv 0.44
CUI: C4310768
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 		0.700 1.000 1 2015 2015
dbSNP: rs36001488
rs36001488 		0.724 0.240 2 233276621 intron variant C/T snv 0.44
CUI: C3150797
Disease: AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		0.700 1.000 1 2015 2015
dbSNP: rs36001488
rs36001488 		0.724 0.240 2 233276621 intron variant C/T snv 0.44
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs36001488
rs36001488 		0.724 0.240 2 233276621 intron variant C/T snv 0.44
CUI: C0920350
Disease: Autoimmune thyroiditis
Autoimmune thyroiditis 		Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2015 2015
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: 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: 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: 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: 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: 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: 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: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs36001488
rs36001488 		0.724 0.240 2 233276621 intron variant C/T snv 0.44
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs35300242
rs35300242 		0.827 0.120 2 233260144 intron variant G/A;C snv
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2241880
rs2241880 		0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2019 2019