SI, sucrase-isomaltase, 6476

N. diseases: 117; N. variants: 15
Disease: Cardiomyopathies ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1465957886
rs1465957886
Entrez Id: 6476
Gene Symbol: SI
SI
CUI: C0878544
Disease:
Cardiomyopathies 		0.010 GeneticVariation BEFREE Similar results were reported for c.1798C>T (p.Arg600Cys), which further supports the biochemical phenotype observed in IO. 24384324 2014