rs888909415, SLC5A1

N. diseases: 1
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 Two mutations are novel; c.265G>A (p.G89R) and c.1304 G>A (p.G435D), and 2 have been previously reported to cause cGGM, c.765 C>G (p.C255W) and c.1136 G>A (p.R379Q). 28753187 2018