Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912611
rs121912611
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		0.800 GeneticVariation UNIPROT Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption. 16329100

2006
dbSNP: rs121912611
rs121912611
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		0.800 GeneticVariation UNIPROT Congenital sucrase-isomaltase deficiency because of an accumulation of the mutant enzyme in the endoplasmic reticulum. 14724820

2003
dbSNP: rs121912611
rs121912611
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		0.800 GeneticVariation UNIPROT Molecular basis of aberrant apical protein transport in an intestinal enzyme disorder. 11340066

2001
dbSNP: rs121912611
rs121912611
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		0.800 GeneticVariation UNIPROT Congenital sucrase-isomaltase deficiency arising from cleavage and secretion of a mutant form of the enzyme. 10903344

2000
dbSNP: rs121912611
rs121912611
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		0.800 GeneticVariation UNIPROT Congenital sucrase-isomaltase deficiency. Identification of a glutamine to proline substitution that leads to a transport block of sucrase-isomaltase in a pre-Golgi compartment. 8609217

1996
dbSNP: rs121912611
rs121912611
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		G 0.800 CausalMutation CLINVAR

dbSNP: rs121912612
rs121912612
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		0.800 GeneticVariation UNIPROT Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption. 16329100

2006
dbSNP: rs121912612
rs121912612
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		0.800 GeneticVariation UNIPROT Congenital sucrase-isomaltase deficiency because of an accumulation of the mutant enzyme in the endoplasmic reticulum. 14724820

2003
dbSNP: rs121912612
rs121912612
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		0.800 GeneticVariation UNIPROT Molecular basis of aberrant apical protein transport in an intestinal enzyme disorder. 11340066

2001
dbSNP: rs121912612
rs121912612
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		0.800 GeneticVariation UNIPROT Congenital sucrase-isomaltase deficiency arising from cleavage and secretion of a mutant form of the enzyme. 10903344

2000
dbSNP: rs121912612
rs121912612
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		0.800 GeneticVariation UNIPROT Congenital sucrase-isomaltase deficiency. Identification of a glutamine to proline substitution that leads to a transport block of sucrase-isomaltase in a pre-Golgi compartment. 8609217

1996
dbSNP: rs121912612
rs121912612
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		C 0.800 CausalMutation CLINVAR

dbSNP: rs121912613
rs121912613
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		0.800 GeneticVariation UNIPROT Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption. 16329100

2006
dbSNP: rs121912613
rs121912613
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		0.800 GeneticVariation UNIPROT Congenital sucrase-isomaltase deficiency because of an accumulation of the mutant enzyme in the endoplasmic reticulum. 14724820

2003
dbSNP: rs121912613
rs121912613
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		0.800 GeneticVariation UNIPROT Molecular basis of aberrant apical protein transport in an intestinal enzyme disorder. 11340066

2001
dbSNP: rs121912613
rs121912613
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		0.800 GeneticVariation UNIPROT Congenital sucrase-isomaltase deficiency arising from cleavage and secretion of a mutant form of the enzyme. 10903344

2000
dbSNP: rs121912613
rs121912613
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		0.800 GeneticVariation UNIPROT Congenital sucrase-isomaltase deficiency. Identification of a glutamine to proline substitution that leads to a transport block of sucrase-isomaltase in a pre-Golgi compartment. 8609217

1996
dbSNP: rs121912613
rs121912613
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		G 0.800 CausalMutation CLINVAR

dbSNP: rs121912614
rs121912614
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		0.800 GeneticVariation UNIPROT Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption. 16329100

2006
dbSNP: rs121912614
rs121912614
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		0.800 GeneticVariation UNIPROT Congenital sucrase-isomaltase deficiency because of an accumulation of the mutant enzyme in the endoplasmic reticulum. 14724820

2003
dbSNP: rs121912614
rs121912614
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		0.800 GeneticVariation UNIPROT Molecular basis of aberrant apical protein transport in an intestinal enzyme disorder. 11340066

2001
dbSNP: rs121912614
rs121912614
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		0.800 GeneticVariation UNIPROT Congenital sucrase-isomaltase deficiency arising from cleavage and secretion of a mutant form of the enzyme. 10903344

2000
dbSNP: rs121912614
rs121912614
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		0.800 GeneticVariation UNIPROT Congenital sucrase-isomaltase deficiency. Identification of a glutamine to proline substitution that leads to a transport block of sucrase-isomaltase in a pre-Golgi compartment. 8609217

1996
dbSNP: rs121912614
rs121912614
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		T 0.800 CausalMutation CLINVAR

dbSNP: rs121912615
rs121912615
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		C 0.800 GeneticVariation CLINVAR The novel compound heterozygote V577G/C1531W SI mutations lead to lack of SI expression in the duodenal brush border, confirming the diagnosis of CSID. 27749612

2017