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: rs2241880
rs2241880 		0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2016 2016
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: 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: 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: C4310768
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 		0.700 1.000 1 2015 2015
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: 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: 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: 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: rs901312933
rs901312933 		0.882 0.120 2 233282746 missense variant G/A;T snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.060 1.000 6 2007 2016
dbSNP: rs2241879
rs2241879 		0.882 0.080 2 233274822 intron variant G/A snv 0.45 0.44
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.030 1.000 3 2008 2012
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: rs3792109
rs3792109 		1.000 0.040 2 233275771 non coding transcript exon variant G/A snv 0.45 0.42
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.800 1.000 2 2010 2013
dbSNP: rs901312933
rs901312933 		0.882 0.120 2 233282746 missense variant G/A;T snv
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.020 1.000 2 2009 2010
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: 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