Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912668
rs121912668
SLC5A1
0.810 GeneticVariation UNIPROT A missense mutation in the Na(+)/glucose cotransporter gene SGLT1 in a patient with congenital glucose-galactose malabsorption: normal trafficking but inactivation of the mutant protein. 11406349

2001
dbSNP: rs121912668
rs121912668
SLC5A1
0.810 GeneticVariation UNIPROT Missense mutations in SGLT1 cause glucose-galactose malabsorption by trafficking defects. 10036327

1999
dbSNP: rs121912668
rs121912668
SLC5A1
0.810 GeneticVariation BEFREE Two proband siblings with GGM were previously demonstrated to contain a missense mutation (D28N) in the Na(+)-dependent glucose/galactose cotransporter (SGLT1) that accounts for the defect in sugar absorption. 8844006

1996
dbSNP: rs121912668
rs121912668
SLC5A1
0.810 GeneticVariation UNIPROT Structure of the human Na+/glucose cotransporter gene SGLT1. 8195156

1994
dbSNP: rs121912668
rs121912668
SLC5A1
0.810 GeneticVariation UNIPROT Glucose/galactose malabsorption caused by a defect in the Na+/glucose cotransporter. 2008213

1991
dbSNP: rs121912668
rs121912668
SLC5A1
A 0.810 CausalMutation CLINVAR