APEH, acylaminoacyl-peptide hydrolase, 327

N. diseases: 36; N. variants: 6
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: rs3197999
rs3197999 		0.732 0.280 3 49684099 missense variant G/A snv 0.26 0.27
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.850 1.000 7 2008 2017
dbSNP: rs3197999
rs3197999 		0.732 0.280 3 49684099 missense variant G/A snv 0.26 0.27
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.830 1.000 8 2008 2017
dbSNP: rs3197999
rs3197999 		0.732 0.280 3 49684099 missense variant G/A snv 0.26 0.27
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.820 1.000 7 2008 2017
dbSNP: rs9822268
rs9822268 		0.925 0.040 3 49682296 intron variant G/A;T snv
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.800 1.000 1 2011 2011
dbSNP: rs3197999
rs3197999 		0.732 0.280 3 49684099 missense variant G/A snv 0.26 0.27
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis 		Digestive System Diseases 0.720 1.000 4 2011 2013
dbSNP: rs3197999
rs3197999 		0.732 0.280 3 49684099 missense variant G/A snv 0.26 0.27
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		Digestive System Diseases 0.700 1.000 4 2011 2017
dbSNP: rs13085791
rs13085791 		3 49684365 synonymous variant C/A snv 0.27 0.28
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs13093385
rs13093385 		3 49673046 upstream gene variant A/G;T snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs3197999
rs3197999 		0.732 0.280 3 49684099 missense variant G/A snv 0.26 0.27
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs3197999
rs3197999 		0.732 0.280 3 49684099 missense variant G/A snv 0.26 0.27
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs3197999
rs3197999 		0.732 0.280 3 49684099 missense variant G/A snv 0.26 0.27
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs3197999
rs3197999 		0.732 0.280 3 49684099 missense variant G/A snv 0.26 0.27
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs3197999
rs3197999 		0.732 0.280 3 49684099 missense variant G/A snv 0.26 0.27
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 1 2016 2016
dbSNP: rs371314787
rs371314787 		3 49672480 upstream gene variant TTTT/-;T;TT;TTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT delins
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs9822268
rs9822268 		0.925 0.040 3 49682296 intron variant G/A;T snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs3197999
rs3197999 		0.732 0.280 3 49684099 missense variant G/A snv 0.26 0.27
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs3197999
rs3197999 		0.732 0.280 3 49684099 missense variant G/A snv 0.26 0.27
CUI: C0860168
Disease: Distal colitis
Distal colitis 		Digestive System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs3197999
rs3197999 		0.732 0.280 3 49684099 missense variant G/A snv 0.26 0.27
CUI: C0750952
Disease: Biliary Tract Cancer
Biliary Tract Cancer 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs3197999
rs3197999 		0.732 0.280 3 49684099 missense variant G/A snv 0.26 0.27
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs3197999
rs3197999 		0.732 0.280 3 49684099 missense variant G/A snv 0.26 0.27
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs3197999
rs3197999 		0.732 0.280 3 49684099 missense variant G/A snv 0.26 0.27
CUI: C3805278
Disease: Extrahepatic Cholangiocarcinoma
Extrahepatic Cholangiocarcinoma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs4855883
rs4855883 		0.851 0.080 3 49673881 upstream gene variant G/A;C snv
CUI: C0038362
Disease: Stomatitis
Stomatitis 		Stomatognathic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs4855883
rs4855883 		0.851 0.080 3 49673881 upstream gene variant G/A;C snv
CUI: C1568868
Disease: Oral Mucositis
Oral Mucositis 		Stomatognathic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs4855883
rs4855883 		0.851 0.080 3 49673881 upstream gene variant G/A;C snv
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs4855883
rs4855883 		0.851 0.080 3 49673881 upstream gene variant G/A;C snv
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm 		Neoplasms 0.010 1.000 1 2018 2018