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: rs890870104
rs890870104 		1.000 0.080 4 102689573 splice donor variant C/T snv 1.2E-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: rs781584789
rs781584789 		1.000 0.080 4 102639814 missense variant C/T snv 8.8E-05 1.1E-04
CUI: C0028738
Disease: Nystagmus
Nystagmus 		Eye Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs775574131
rs775574131 		1.000 0.080 4 102657845 frameshift variant CA/- delins 8.0E-06 7.0E-06
CUI: C4048196
Disease: beta-Mannosidosis
beta-Mannosidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs772852668
rs772852668 		1.000 0.080 4 102635047 splice acceptor variant T/C snv 2.4E-05
CUI: C4048196
Disease: beta-Mannosidosis
beta-Mannosidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 1998 2019
dbSNP: rs771587242
rs771587242 		1.000 0.080 4 102723865 synonymous variant T/C snv 2.4E-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: rs7690700
rs7690700 		1.000 0.080 4 102630911 3 prime UTR variant T/A;C 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: rs7690123
rs7690123 		1.000 0.080 4 102630602 downstream gene variant T/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: 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: rs7665659
rs7665659 		1.000 0.080 4 102630661 downstream gene variant C/T 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: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.800 1.000 2 2011 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: rs764950128
rs764950128 		1.000 0.080 4 102671339 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C4048196
Disease: beta-Mannosidosis
beta-Mannosidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs763849774
rs763849774 		1.000 0.080 4 102690752 stop gained C/T snv 2.1E-05 2.1E-05
CUI: C4048196
Disease: beta-Mannosidosis
beta-Mannosidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 2007 2011
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: 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: rs735404
rs735404 		1.000 0.080 4 102632508 intron variant G/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: rs735403
rs735403 		1.000 0.080 4 102632386 intron variant C/T 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: rs6844332
rs6844332 		1.000 0.080 4 102634095 intron variant G/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: rs6839064
rs6839064 		1.000 0.080 4 102634519 intron variant T/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: rs6821119
rs6821119 		1.000 0.080 4 102634076 intron variant T/A;C 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: 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