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: 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: 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: 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: 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: 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: 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: 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: 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: rs36001488
rs36001488
0.724 0.240 2 233276621 intron variant C/T snv 0.44
Diabetes Mellitus, Insulin-Dependent
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine 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: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency
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: 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: C0010346
Disease: Crohn Disease
Crohn Disease
Digestive 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: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
Musculoskeletal 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: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
Skin and Connective Tissue 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
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: C3495559
Disease: Juvenile arthritis
Juvenile arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2015 2015