MANBA, mannosidase beta, 4126

N. diseases: 38; N. variants: 58
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: rs752343321
rs752343321 		1.000 0.080 4 102714538 stop gained -/TCCCAACTAA delins 1.6E-05 1.4E-05
CUI: C4048196
Disease: beta-Mannosidosis
beta-Mannosidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs223498
rs223498 		1.000 0.040 4 102730805 intron variant A/C snv 0.59
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs227275
rs227275 		4 102672741 intron variant A/C snv 0.55
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs5026476
rs5026476 		1.000 0.080 4 102633753 intron variant A/C snv 0.55
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs6812747
rs6812747 		1.000 0.080 4 102634260 intron variant A/C snv 0.55
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs735405
rs735405 		1.000 0.080 4 102632759 intron variant A/C snv 0.55
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs13106325
rs13106325 		1.000 0.080 4 102633835 intron variant A/C;G;T snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs228615
rs228615 		1.000 0.080 4 102658303 intron variant A/C;T snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs121434334
rs121434334 		1.000 0.080 4 102657873 missense variant A/G snv
CUI: C4048196
Disease: beta-Mannosidosis
beta-Mannosidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 5 1998 2019
dbSNP: rs7665090
rs7665090 		0.807 0.280 4 102630446 downstream gene variant A/G snv 0.55
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.800 1.000 2 2011 2012
dbSNP: rs12644381
rs12644381 		1.000 0.080 4 102631273 3 prime UTR variant A/G snv 0.55
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs223489
rs223489 		4 102759827 intron variant A/G snv 0.40
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs3194585
rs3194585 		1.000 0.080 4 102631933 3 prime UTR variant A/G snv 0.55
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs7665090
rs7665090 		0.807 0.280 4 102630446 downstream gene variant A/G snv 0.55
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs7665090
rs7665090 		0.807 0.280 4 102630446 downstream gene variant A/G snv 0.55
CUI: C0023892
Disease: Biliary cirrhosis
Biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs7665090
rs7665090 		0.807 0.280 4 102630446 downstream gene variant A/G snv 0.55
CUI: C0206138
Disease: CREST Syndrome
CREST Syndrome 		Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs7665090
rs7665090 		0.807 0.280 4 102630446 downstream gene variant A/G snv 0.55
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2015 2015
dbSNP: rs7665090
rs7665090 		0.807 0.280 4 102630446 downstream gene variant A/G snv 0.55
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs13106304
rs13106304 		1.000 0.080 4 102633818 intron variant A/G;T snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs142248415
rs142248415 		1.000 0.080 4 102634957 missense variant A/G;T snv 4.0E-06; 2.1E-03 7.5E-04
CUI: C0028738
Disease: Nystagmus
Nystagmus 		Eye Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs374545788
rs374545788 		1.000 0.080 4 102664853 splice acceptor variant C/A snv 3.6E-05 7.0E-06
CUI: C4048196
Disease: beta-Mannosidosis
beta-Mannosidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 1998 2002
dbSNP: rs7665854
rs7665854 		1.000 0.080 4 102630752 downstream gene variant C/A snv 0.55
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs5026472
rs5026472 		4 102633616 intron variant C/A;G snv
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs6813322
rs6813322 		1.000 0.080 4 102634462 intron variant C/A;G snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs121434335
rs121434335 		1.000 0.080 4 102726614 stop gained C/A;G;T snv 4.0E-06
CUI: C4048196
Disease: beta-Mannosidosis
beta-Mannosidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0