MMEL1, membrane metalloendopeptidase like 1, 79258

N. diseases: 74; N. variants: 11
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: rs3890745
rs3890745 		0.925 0.200 1 2622185 intron variant T/C snv 0.40
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.810 0.750 4 2008 2019
dbSNP: rs2843401
rs2843401 		1.000 0.120 1 2596694 splice region variant T/C snv 0.61 0.59
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.800 1.000 2 2012 2015
dbSNP: rs4445406
rs4445406 		1.000 0.080 1 2607961 intron variant T/C snv 0.41
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.800 1.000 2 2011 2012
dbSNP: rs2843403
rs2843403 		0.882 0.200 1 2597658 intron variant T/C snv 0.54
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.800 1.000 1 2012 2012
dbSNP: rs3748816
rs3748816 		0.827 0.200 1 2595307 missense variant A/G snv 0.41 0.46
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.800 1.000 1 2010 2010
dbSNP: rs3748816
rs3748816 		0.827 0.200 1 2595307 missense variant A/G snv 0.41 0.46
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.710 1.000 3 2010 2011
dbSNP: rs3748816
rs3748816 		0.827 0.200 1 2595307 missense variant A/G snv 0.41 0.46
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		Digestive System Diseases 0.700 1.000 2 2013 2017
dbSNP: rs3748816
rs3748816 		0.827 0.200 1 2595307 missense variant A/G snv 0.41 0.46
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis 		Digestive System Diseases 0.700 1.000 2 2012 2013
dbSNP: rs10752747
rs10752747 		1 2593476 intron variant G/T snv 0.41
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases 		Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs10752747
rs10752747 		1 2593476 intron variant G/T snv 0.41
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs12138909
rs12138909 		1 2607299 intron variant C/T snv 0.11
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs12138909
rs12138909 		1 2607299 intron variant C/T snv 0.11
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases 		Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs187786174
rs187786174 		1.000 0.120 1 2592372 intron variant G/A snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs3748816
rs3748816 		0.827 0.200 1 2595307 missense variant A/G snv 0.41 0.46
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs3748816
rs3748816 		0.827 0.200 1 2595307 missense variant A/G snv 0.41 0.46
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs3748816
rs3748816 		0.827 0.200 1 2595307 missense variant A/G snv 0.41 0.46
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases 		Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs3748817
rs3748817 		1.000 0.080 1 2594226 intron variant T/C snv 0.46
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs3890745
rs3890745 		0.925 0.200 1 2622185 intron variant T/C snv 0.40
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases 		Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs3890745
rs3890745 		0.925 0.200 1 2622185 intron variant T/C snv 0.40
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs3890745
rs3890745 		0.925 0.200 1 2622185 intron variant T/C snv 0.40
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs4073285
rs4073285 		0.925 0.200 1 2608357 intron variant C/T snv 0.40
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs4073285
rs4073285 		0.925 0.200 1 2608357 intron variant C/T snv 0.40
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2843403
rs2843403 		0.882 0.200 1 2597658 intron variant T/C snv 0.54
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2843403
rs2843403 		0.882 0.200 1 2597658 intron variant T/C snv 0.54
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs6684865
rs6684865 		0.925 0.160 1 2614790 intron variant G/A snv 0.40
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011