Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607049
rs267607049
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 		T 0.800 CausalMutation CLINVAR

dbSNP: rs121912613
rs121912613
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 		C 0.800 CausalMutation CLINVAR

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

dbSNP: rs1553775177
rs1553775177
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs143388292
rs143388292
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		0.700 GeneticVariation UNIPROT

dbSNP: rs551975446
rs551975446
SI
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		0.010 GeneticVariation BEFREE A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII). 7981676

1994
dbSNP: rs551975446
rs551975446
SI
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.010 GeneticVariation BEFREE A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII). 7981676

1994
dbSNP: rs79717168
rs79717168
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		C 0.800 CausalMutation CLINVAR Compound heterozygous mutations affect protein folding and function in patients with congenital sucrase-isomaltase deficiency. 19121318

2009
dbSNP: rs121912616
rs121912616
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		T 0.800 GeneticVariation CLINVAR Compound heterozygous mutations affect protein folding and function in patients with congenital sucrase-isomaltase deficiency. 19121318

2009
dbSNP: rs121912616
rs121912616
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		T 0.800 CausalMutation CLINVAR Compound heterozygous mutations affect protein folding and function in patients with congenital sucrase-isomaltase deficiency. 19121318

2009
dbSNP: rs121912615
rs121912615
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		C 0.800 CausalMutation CLINVAR Compound heterozygous mutations affect protein folding and function in patients with congenital sucrase-isomaltase deficiency. 19121318

2009
dbSNP: rs121912615
rs121912615
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		C 0.800 GeneticVariation CLINVAR Compound heterozygous mutations affect protein folding and function in patients with congenital sucrase-isomaltase deficiency. 19121318

2009
dbSNP: rs79717168
rs79717168
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		C 0.800 CausalMutation CLINVAR Congenital and putatively acquired forms of sucrase-isomaltase deficiency in infancy: effects of sacrosidase therapy. 19680155

2009
dbSNP: rs79717168
rs79717168
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: rs267607049
rs267607049
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: rs121912616
rs121912616
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: rs121912615
rs121912615
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 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 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 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 arising from cleavage and secretion of a mutant form of the enzyme. 10903344

2000
dbSNP: rs765433197
rs765433197
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		0.700 GeneticVariation UNIPROT Congenital sucrase-isomaltase deficiency arising from cleavage and secretion of a mutant form of the enzyme. 10903344

2000
dbSNP: rs79717168
rs79717168
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