rs17683011, SLC5A1

N. diseases: 3
Disease: Congenital glucose-galactose malabsorption ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital glucose-galactose malabsorption
CUI: C0268186
Disease: Congenital glucose-galactose malabsorption
0.010 GeneticVariation BEFREE Sequence analysis of the 15 protein-coding exons and the corresponding exon-intron boundaries of SLC5A1 gene revealed four homozygous missense mutations, c.152A>G (p.N51S), c.1231G>A (p.A411T), c.1673G>A (p.R558H), and c.1845C>G (p.H615Q), that co-segregate with the GGM phenotype in all of the affected individuals. 20486940 2011