SLC5A1 Chromosome 22
Solute carrier family 5 member 1
Upload your DNA to see your personal genotypes for variants in SLC5A1.
What This Gene Does
This gene encodes a member of the sodium-dependent glucose transporter (SGLT) family. The encoded integral membrane protein is the primary mediator of dietary glucose and galactose uptake from the intestinal lumen. Mutations in this gene have been associated with glucose-galactose malabsorption. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
Gene Info
Gene Group
Solute carrier family 5
Locus Type
gene with protein product
Location
22q12.3
Ensembl
ENSG00000100170
Associated Conditions (3)
Congenital glucose-galactose malabsorption
Inborn genetic diseases
SLC5A1-related disorder
Key Variants
RS1229387697
Conflicting classifications of pathogenicity
Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption
Health Risk
RS139037092
Conflicting classifications of pathogenicity
Congenital glucose-galactose malabsorption, Inborn genetic diseases, Congenital glucose-galactose malabsorption
Health Risk
RS144581584
Conflicting classifications of pathogenicity
Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption
Health Risk
RS1457860223
Conflicting classifications of pathogenicity
Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption
Health Risk
RS1475148938
Conflicting classifications of pathogenicity
Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption
Health Risk
RS148720069
Conflicting classifications of pathogenicity
Congenital glucose-galactose malabsorption, SLC5A1-related disorder, Congenital glucose-galactose malabsorption
Health Risk
RS150117594
Conflicting classifications of pathogenicity
Congenital glucose-galactose malabsorption, SLC5A1-related disorder, Congenital glucose-galactose malabsorption
Health Risk
RS150288967
Conflicting classifications of pathogenicity
Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption
Health Risk
RS199872460
Conflicting classifications of pathogenicity
Congenital glucose-galactose malabsorption, SLC5A1-related disorder, Congenital glucose-galactose malabsorption
Health Risk
RS200130719
Conflicting classifications of pathogenicity
Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption
Health Risk
RS200228396
Conflicting classifications of pathogenicity
Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption
Health Risk
RS200261297
Conflicting classifications of pathogenicity
Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption
Health Risk
All Variants (50)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1229387697 | Health Risk | Conflicting classifications of pathogenicity | Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption |
| RS139037092 | Health Risk | Conflicting classifications of pathogenicity | Congenital glucose-galactose malabsorption, Inborn genetic diseases, Congenital glucose-galactose malabsorption |
| RS144581584 | Health Risk | Conflicting classifications of pathogenicity | Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption |
| RS1457860223 | Health Risk | Conflicting classifications of pathogenicity | Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption |
| RS1475148938 | Health Risk | Conflicting classifications of pathogenicity | Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption |
| RS148720069 | Health Risk | Conflicting classifications of pathogenicity | Congenital glucose-galactose malabsorption, SLC5A1-related disorder, Congenital glucose-galactose malabsorption |
| RS150117594 | Health Risk | Conflicting classifications of pathogenicity | Congenital glucose-galactose malabsorption, SLC5A1-related disorder, Congenital glucose-galactose malabsorption |
| RS150288967 | Health Risk | Conflicting classifications of pathogenicity | Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption |
| RS199872460 | Health Risk | Conflicting classifications of pathogenicity | Congenital glucose-galactose malabsorption, SLC5A1-related disorder, Congenital glucose-galactose malabsorption |
| RS200130719 | Health Risk | Conflicting classifications of pathogenicity | Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption |
| RS200228396 | Health Risk | Conflicting classifications of pathogenicity | Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption |
| RS200261297 | Health Risk | Conflicting classifications of pathogenicity | Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption |
| RS200276021 | Health Risk | Conflicting classifications of pathogenicity | Congenital glucose-galactose malabsorption, SLC5A1-related disorder, Congenital glucose-galactose malabsorption |
| RS200665892 | Health Risk | Conflicting classifications of pathogenicity | Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption |
| RS200849778 | Health Risk | Conflicting classifications of pathogenicity | Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption |
| RS201799893 | Health Risk | Conflicting classifications of pathogenicity | Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption |
| RS201834537 | Health Risk | Conflicting classifications of pathogenicity | Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption |
| RS201862174 | Health Risk | Conflicting classifications of pathogenicity | Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption |
| RS201895474 | Health Risk | Conflicting classifications of pathogenicity | Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption |
| RS33918436 | Health Risk | Conflicting classifications of pathogenicity | Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption |
| RS33975915 | Health Risk | Conflicting classifications of pathogenicity | Congenital glucose-galactose malabsorption, Inborn genetic diseases, Congenital glucose-galactose malabsorption |
| RS368853644 | Health Risk | Conflicting classifications of pathogenicity | Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption |
| RS376255565 | Health Risk | Conflicting classifications of pathogenicity | Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption |
| RS61733910 | Health Risk | Conflicting classifications of pathogenicity | Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption |
| RS767459349 | Health Risk | Conflicting classifications of pathogenicity | Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption |
| RS768831308 | Health Risk | Conflicting classifications of pathogenicity | Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption |
| RS1046576892 | Health Risk | Likely pathogenic | SLC5A1-related disorder, SLC5A1-related disorder |
| RS1203557575 | Health Risk | Likely pathogenic | SLC5A1-related disorder, Congenital glucose-galactose malabsorption, SLC5A1-related disorder |
| RS121912668 | Health Risk | Likely pathogenic | Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption |
| RS200105615 | Health Risk | Likely pathogenic | Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption |
| RS2149487756 | Health Risk | Likely pathogenic | Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption |
| RS2149492476 | Health Risk | Likely pathogenic | Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption |
| RS267606230 | Health Risk | Likely pathogenic | Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption |
| RS764766115 | Health Risk | Likely pathogenic | Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption |
| RS774651252 | Health Risk | Likely pathogenic | Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption |
| RS927157864 | Health Risk | Likely pathogenic | Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption |
| RS933026071 | Health Risk | Likely pathogenic | SLC5A1-related disorder, Congenital glucose-galactose malabsorption, SLC5A1-related disorder |
| RS1455367784 | Health Risk | Pathogenic | Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption |
| RS200206252 | Health Risk | Pathogenic | Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption |
| RS200401846 | Health Risk | Pathogenic | Congenital glucose-galactose malabsorption, SLC5A1-related disorder, Congenital glucose-galactose malabsorption |
| RS202166715 | Health Risk | Pathogenic | Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption |
| RS2149496680 | Health Risk | Pathogenic | Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption |
| RS2517662048 | Health Risk | Pathogenic | Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption |
| RS2517673510 | Health Risk | Pathogenic | Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption |
| RS2517677261 | Health Risk | Pathogenic | Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption |
| RS764819816 | Health Risk | Pathogenic | Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption |
| RS765502638 | Health Risk | Pathogenic | Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption |
| RS774829996 | Health Risk | Pathogenic | Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption |
| RS779502629 | Health Risk | Pathogenic | Congenital glucose-galactose malabsorption, SLC5A1-related disorder, Congenital glucose-galactose malabsorption |
| RS888909415 | Health Risk | Pathogenic | Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption |