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: 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: 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: rs10210302
rs10210302 		1.000 0.040 2 233250193 intron variant C/A;T snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.810 1.000 2 2007 2010
dbSNP: rs6752107
rs6752107 		1.000 0.040 2 233252802 intron variant G/A snv 0.44
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs6752107
rs6752107 		1.000 0.040 2 233252802 intron variant G/A snv 0.44
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs6738490
rs6738490 		1.000 0.040 2 233252937 intron variant T/C snv 0.44
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2015 2015
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: 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: 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: rs35300242
rs35300242 		0.827 0.120 2 233260144 intron variant G/A;C snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs35300242
rs35300242 		0.827 0.120 2 233260144 intron variant G/A;C snv
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs35300242
rs35300242 		0.827 0.120 2 233260144 intron variant G/A;C snv
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 1 2016 2016
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: rs6737398
rs6737398 		0.925 0.040 2 233261751 intron variant G/A snv 0.62
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs6737398
rs6737398 		0.925 0.040 2 233261751 intron variant G/A snv 0.62
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs12994997
rs12994997 		1.000 0.040 2 233264857 intron variant G/A;C snv 0.45; 4.0E-06
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.800 1.000 1 2012 2012
dbSNP: rs12994997
rs12994997 		1.000 0.040 2 233264857 intron variant G/A;C snv 0.45; 4.0E-06
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs748872005
rs748872005 		1.000 0.040 2 233265070 synonymous variant C/T snv 1.2E-05
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs764831363
rs764831363 		1.000 0.040 2 233270018 synonymous variant C/T snv 9.0E-06
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2013 2013
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: 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: rs3828309
rs3828309 		0.882 0.160 2 233271764 intron variant A/G snv 0.42
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.800 1.000 1 2008 2008
dbSNP: rs3828309
rs3828309 		0.882 0.160 2 233271764 intron variant A/G snv 0.42
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2011 2011
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