SLC9A3 Chromosome 5
Solute carrier family 9 member A3
Upload your DNA to see your personal genotypes for variants in SLC9A3.
What This Gene Does
The protein encoded by this gene is an epithelial brush border Na/H exchanger that uses an inward sodium ion gradient to expel acids from the cell. Defects in this gene are a cause of congenital secretory sodium diarrhea. Pseudogenes of this gene exist on chromosomes 10 and 22. [provided by RefSeq, Mar 2016]
Gene Info
Gene Group
Solute carrier family 9
Locus Type
gene with protein product
Location
5p15.33
Ensembl
ENSG00000066230
Associated Conditions (3)
Inborn genetic diseases
SLC9A3-related disorder
Congenital secretory sodium diarrhea 8
Key Variants
RS1222612723
Conflicting classifications of pathogenicity
Inborn genetic diseases, SLC9A3-related disorder, Congenital secretory sodium diarrhea 8
Health Risk
RS139270058
Conflicting classifications of pathogenicity
Health Risk
RS139970401
Conflicting classifications of pathogenicity
Congenital secretory sodium diarrhea 8, Congenital secretory sodium diarrhea 8
Health Risk
RS146547322
Conflicting classifications of pathogenicity
Congenital secretory sodium diarrhea 8, Congenital secretory sodium diarrhea 8
Health Risk
RS201331870
Conflicting classifications of pathogenicity
Congenital secretory sodium diarrhea 8, SLC9A3-related disorder, Congenital secretory sodium diarrhea 8
Health Risk
RS201704801
Conflicting classifications of pathogenicity
Congenital secretory sodium diarrhea 8, Congenital secretory sodium diarrhea 8
Health Risk
RS372062509
Conflicting classifications of pathogenicity
Congenital secretory sodium diarrhea 8, Congenital secretory sodium diarrhea 8
Health Risk
RS541347122
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS542245214
Conflicting classifications of pathogenicity
Congenital secretory sodium diarrhea 8, Congenital secretory sodium diarrhea 8
Health Risk
RS766583286
Conflicting classifications of pathogenicity
Congenital secretory sodium diarrhea 8, Congenital secretory sodium diarrhea 8
Health Risk
RS777129181
Conflicting classifications of pathogenicity
Inborn genetic diseases, Congenital secretory sodium diarrhea 8, Inborn genetic diseases
Health Risk
RS2126616654
Likely pathogenic
Health Risk
All Variants (27)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1222612723 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, SLC9A3-related disorder, Congenital secretory sodium diarrhea 8 |
| RS139270058 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS139970401 | Health Risk | Conflicting classifications of pathogenicity | Congenital secretory sodium diarrhea 8, Congenital secretory sodium diarrhea 8 |
| RS146547322 | Health Risk | Conflicting classifications of pathogenicity | Congenital secretory sodium diarrhea 8, Congenital secretory sodium diarrhea 8 |
| RS201331870 | Health Risk | Conflicting classifications of pathogenicity | Congenital secretory sodium diarrhea 8, SLC9A3-related disorder, Congenital secretory sodium diarrhea 8 |
| RS201704801 | Health Risk | Conflicting classifications of pathogenicity | Congenital secretory sodium diarrhea 8, Congenital secretory sodium diarrhea 8 |
| RS372062509 | Health Risk | Conflicting classifications of pathogenicity | Congenital secretory sodium diarrhea 8, Congenital secretory sodium diarrhea 8 |
| RS541347122 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS542245214 | Health Risk | Conflicting classifications of pathogenicity | Congenital secretory sodium diarrhea 8, Congenital secretory sodium diarrhea 8 |
| RS766583286 | Health Risk | Conflicting classifications of pathogenicity | Congenital secretory sodium diarrhea 8, Congenital secretory sodium diarrhea 8 |
| RS777129181 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Congenital secretory sodium diarrhea 8, Inborn genetic diseases |
| RS2126616654 | Health Risk | Likely pathogenic | — |
| RS2477588920 | Health Risk | Likely pathogenic | — |
| RS2477597008 | Health Risk | Likely pathogenic | — |
| RS1447447724 | Health Risk | Pathogenic | Congenital secretory sodium diarrhea 8, Congenital secretory sodium diarrhea 8 |
| RS2126621163 | Health Risk | Pathogenic | — |
| RS2477531450 | Health Risk | Pathogenic | — |
| RS2477588348 | Health Risk | Pathogenic | — |
| RS763055603 | Health Risk | Pathogenic | — |
| RS763807389 | Health Risk | Pathogenic | — |
| RS766076524 | Health Risk | Pathogenic | Congenital secretory sodium diarrhea 8, Congenital secretory sodium diarrhea 8 |
| RS776026092 | Health Risk | Pathogenic | Congenital secretory sodium diarrhea 8, Congenital secretory sodium diarrhea 8 |
| RS869312806 | Health Risk | Pathogenic | Congenital secretory sodium diarrhea 8, Congenital secretory sodium diarrhea 8 |
| RS869320692 | Health Risk | Pathogenic | Congenital secretory sodium diarrhea 8, Congenital secretory sodium diarrhea 8 |
| RS869320759 | Health Risk | Pathogenic | Congenital secretory sodium diarrhea 8, Congenital secretory sodium diarrhea 8 |
| RS144524702 | Health Risk | Pathogenic/Likely pathogenic | Congenital secretory sodium diarrhea 8, Congenital secretory sodium diarrhea 8 |
| RS869312807 | Health Risk | Pathogenic/Likely pathogenic | Congenital secretory sodium diarrhea 8, Congenital secretory sodium diarrhea 8 |