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: rs228614
rs228614 		0.925 0.120 4 102657480 intron variant G/A snv 0.50
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.810 1.000 2 2011 2013
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: rs1054037
rs1054037 		1.000 0.080 4 102631552 3 prime UTR variant C/A;T snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.800 1.000 3 2011 2015
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: rs374377679
rs374377679 		1.000 0.080 4 102722876 missense variant G/A snv 2.8E-05 2.1E-05
CUI: C4048196
Disease: beta-Mannosidosis
beta-Mannosidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 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: 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: rs2866413
rs2866413 		1.000 0.080 4 102635920 missense variant G/A;C snv 0.54; 2.4E-05
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 2 2011 2012
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: rs1077358
rs1077358 		1.000 0.080 4 102632769 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: rs1188116333
rs1188116333 		1.000 0.080 4 102664715 frameshift variant TA/- delins 1.2E-05
CUI: C4048196
Disease: beta-Mannosidosis
beta-Mannosidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2002 2002
dbSNP: rs12498722
rs12498722 		1.000 0.080 4 102633365 missense 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: 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: 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: 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: rs13112557
rs13112557 		1.000 0.080 4 102631096 3 prime UTR 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: 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: 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: rs2272695
rs2272695 		1.000 0.080 4 102634646 intron variant G/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: rs2272696
rs2272696 		1.000 0.080 4 102634664 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: 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: rs227283
rs227283 		0.925 0.120 4 102686096 intron variant C/G;T snv
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs227283
rs227283 		0.925 0.120 4 102686096 intron variant C/G;T snv
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs227370
rs227370 		4 102690886 non coding transcript exon variant T/C snv 0.65
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs228611
rs228611 		4 102640552 intron variant G/A snv 0.40
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 1 2016 2016