ALG8, ALG8 alpha-1,3-glucosyltransferase, 79053

N. diseases: 64; N. variants: 8
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: rs121908293
rs121908293 		1.000 0.080 11 78127393 missense variant T/A;C;G snv 2.0E-05; 8.0E-06; 1.2E-05
CUI: C2931002
Disease: Congenital disorder of glycosylation type 1H
Congenital disorder of glycosylation type 1H 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 1 2004 2004
dbSNP: rs121908294
rs121908294 		1.000 0.080 11 78112724 missense variant C/A;T snv 4.0E-06
CUI: C2931002
Disease: Congenital disorder of glycosylation type 1H
Congenital disorder of glycosylation type 1H 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 1 2004 2004
dbSNP: rs139832787
rs139832787 		1.000 0.080 11 78121064 splice donor variant C/T snv 1.7E-04 5.1E-04
CUI: C2931002
Disease: Congenital disorder of glycosylation type 1H
Congenital disorder of glycosylation type 1H 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1470636347
rs1470636347 		1.000 0.080 11 78114262 splice region variant T/C;G snv 4.0E-06
CUI: C2931002
Disease: Congenital disorder of glycosylation type 1H
Congenital disorder of glycosylation type 1H 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1555073109
rs1555073109 		1.000 0.080 11 78127438 splice acceptor variant T/C snv
CUI: C2931002
Disease: Congenital disorder of glycosylation type 1H
Congenital disorder of glycosylation type 1H 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs387906277
rs387906277 		1.000 0.080 11 78121130 frameshift variant G/- del
CUI: C2931002
Disease: Congenital disorder of glycosylation type 1H
Congenital disorder of glycosylation type 1H 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs753631154
rs753631154 		1.000 0.080 11 78121146 frameshift variant -/T delins 2.0E-05; 8.0E-06
CUI: C2931002
Disease: Congenital disorder of glycosylation type 1H
Congenital disorder of glycosylation type 1H 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs794727931
rs794727931 		0.790 0.240 11 78112692 missense variant A/C snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs794727931
rs794727931 		0.790 0.240 11 78112692 missense variant A/C snv
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		Endocrine System Diseases 0.700 0
dbSNP: rs794727931
rs794727931 		0.790 0.240 11 78112692 missense variant A/C snv
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs794727931
rs794727931 		0.790 0.240 11 78112692 missense variant A/C snv
CUI: C0025990
Disease: Micrognathism
Micrognathism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs794727931
rs794727931 		0.790 0.240 11 78112692 missense variant A/C snv
CUI: C2749688
Disease: Abnormal isoelectric focusing of serum transferrin
Abnormal isoelectric focusing of serum transferrin 		0.700 0
dbSNP: rs794727931
rs794727931 		0.790 0.240 11 78112692 missense variant A/C snv
CUI: C0024421
Disease: Macroglossia
Macroglossia 		Stomatognathic Diseases 0.700 0
dbSNP: rs794727931
rs794727931 		0.790 0.240 11 78112692 missense variant A/C snv
CUI: C0240671
Disease: Partial thromboplastin time increased (finding)
Partial thromboplastin time increased (finding) 		0.700 0
dbSNP: rs794727931
rs794727931 		0.790 0.240 11 78112692 missense variant A/C snv
CUI: C0424230
Disease: Motor retardation
Motor retardation 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs794727931
rs794727931 		0.790 0.240 11 78112692 missense variant A/C snv
CUI: C0015930
Disease: Fetal Distress
Fetal Distress 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs794727931
rs794727931 		0.790 0.240 11 78112692 missense variant A/C snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs794727931
rs794727931 		0.790 0.240 11 78112692 missense variant A/C snv
CUI: C4022114
Disease: Aplasia/hypoplasia of the proximal phalanx of the 5th toe
Aplasia/hypoplasia of the proximal phalanx of the 5th toe 		0.700 0
dbSNP: rs794727931
rs794727931 		0.790 0.240 11 78112692 missense variant A/C snv
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs794727931
rs794727931 		0.790 0.240 11 78112692 missense variant A/C snv
CUI: C0010520
Disease: Cyanosis
Cyanosis 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs794727931
rs794727931 		0.790 0.240 11 78112692 missense variant A/C snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs794727931
rs794727931 		0.790 0.240 11 78112692 missense variant A/C snv
CUI: C0003578
Disease: Apnea
Apnea 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases 0.700 0
dbSNP: rs794727931
rs794727931 		0.790 0.240 11 78112692 missense variant A/C snv
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs794727931
rs794727931 		0.790 0.240 11 78112692 missense variant A/C snv
CUI: C0920299
Disease: Overriding toe
Overriding toe 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs794727931
rs794727931 		0.790 0.240 11 78112692 missense variant A/C snv
CUI: C2931002
Disease: Congenital disorder of glycosylation type 1H
Congenital disorder of glycosylation type 1H 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0