SLC40A1 Chromosome 2
Solute carrier family 40 member 1
Upload your DNA to see your personal genotypes for variants in SLC40A1.
What This Gene Does
The protein encoded by this gene is a cell membrane protein that may be involved in iron export from duodenal epithelial cells. Defects in this gene are a cause of hemochromatosis type 4 (HFE4). [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Solute carrier family 40
Locus Type
gene with protein product
Location
2q32.2
Ensembl
ENSG00000138449
Associated Conditions (3)
Hemochromatosis type 4
Inborn genetic diseases
SLC40A1-related disorder
Key Variants
RS104893670
Conflicting classifications of pathogenicity
Hemochromatosis type 4, Hemochromatosis type 4, Hemochromatosis type 4
Health Risk
RS142456282
Conflicting classifications of pathogenicity
Hemochromatosis type 4, Inborn genetic diseases, SLC40A1-related disorder
Health Risk
RS147246197
Conflicting classifications of pathogenicity
Hemochromatosis type 4, Inborn genetic diseases, Hemochromatosis type 4
Health Risk
RS149517113
Conflicting classifications of pathogenicity
Hemochromatosis type 4, Inborn genetic diseases, Hemochromatosis type 4
Health Risk
RS199683014
Conflicting classifications of pathogenicity
Inborn genetic diseases, Hemochromatosis type 4, Inborn genetic diseases
Health Risk
RS200360961
Conflicting classifications of pathogenicity
Hemochromatosis type 4, Hemochromatosis type 4
Health Risk
RS369255146
Conflicting classifications of pathogenicity
Inborn genetic diseases, Hemochromatosis type 4, Inborn genetic diseases
Health Risk
RS376571265
Conflicting classifications of pathogenicity
Hemochromatosis type 4, Inborn genetic diseases, Hemochromatosis type 4
Health Risk
RS560312863
Conflicting classifications of pathogenicity
Hemochromatosis type 4, Inborn genetic diseases, Hemochromatosis type 4
Health Risk
RS572245704
Conflicting classifications of pathogenicity
Hemochromatosis type 4, Hemochromatosis type 4
Health Risk
RS753603407
Conflicting classifications of pathogenicity
Hemochromatosis type 4, SLC40A1-related disorder, Hemochromatosis type 4
Health Risk
RS757531583
Conflicting classifications of pathogenicity
Hemochromatosis type 4, Inborn genetic diseases, Hemochromatosis type 4
Health Risk
All Variants (50)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS104893670 | Health Risk | Conflicting classifications of pathogenicity | Hemochromatosis type 4, Hemochromatosis type 4, Hemochromatosis type 4 |
| RS142456282 | Health Risk | Conflicting classifications of pathogenicity | Hemochromatosis type 4, Inborn genetic diseases, SLC40A1-related disorder |
| RS147246197 | Health Risk | Conflicting classifications of pathogenicity | Hemochromatosis type 4, Inborn genetic diseases, Hemochromatosis type 4 |
| RS149517113 | Health Risk | Conflicting classifications of pathogenicity | Hemochromatosis type 4, Inborn genetic diseases, Hemochromatosis type 4 |
| RS199683014 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Hemochromatosis type 4, Inborn genetic diseases |
| RS200360961 | Health Risk | Conflicting classifications of pathogenicity | Hemochromatosis type 4, Hemochromatosis type 4 |
| RS369255146 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Hemochromatosis type 4, Inborn genetic diseases |
| RS376571265 | Health Risk | Conflicting classifications of pathogenicity | Hemochromatosis type 4, Inborn genetic diseases, Hemochromatosis type 4 |
| RS560312863 | Health Risk | Conflicting classifications of pathogenicity | Hemochromatosis type 4, Inborn genetic diseases, Hemochromatosis type 4 |
| RS572245704 | Health Risk | Conflicting classifications of pathogenicity | Hemochromatosis type 4, Hemochromatosis type 4 |
| RS753603407 | Health Risk | Conflicting classifications of pathogenicity | Hemochromatosis type 4, SLC40A1-related disorder, Hemochromatosis type 4 |
| RS757531583 | Health Risk | Conflicting classifications of pathogenicity | Hemochromatosis type 4, Inborn genetic diseases, Hemochromatosis type 4 |
| RS771203234 | Health Risk | Conflicting classifications of pathogenicity | Hemochromatosis type 4, Hemochromatosis type 4 |
| RS978427853 | Health Risk | Conflicting classifications of pathogenicity | Hemochromatosis type 4, Hemochromatosis type 4, SLC40A1-related disorder |
| RS1040988213 | Health Risk | Likely pathogenic | Hemochromatosis type 4, Hemochromatosis type 4 |
| RS104893663 | Health Risk | Likely pathogenic | Hemochromatosis type 4, Hemochromatosis type 4 |
| RS104893671 | Health Risk | Likely pathogenic | Hemochromatosis type 4, Hemochromatosis type 4, Hemochromatosis type 4 |
| RS1060501101 | Health Risk | Likely pathogenic | Hemochromatosis type 4, Hemochromatosis type 4 |
| RS1205429003 | Health Risk | Likely pathogenic | Hemochromatosis type 4, Hemochromatosis type 4 |
| RS1278475785 | Health Risk | Likely pathogenic | Hemochromatosis type 4, Hemochromatosis type 4 |
| RS1313335539 | Health Risk | Likely pathogenic | Hemochromatosis type 4, Hemochromatosis type 4 |
| RS1409883266 | Health Risk | Likely pathogenic | Hemochromatosis type 4, Hemochromatosis type 4 |
| RS2105620059 | Health Risk | Likely pathogenic | Hemochromatosis type 4, Hemochromatosis type 4 |
| RS2105620090 | Health Risk | Likely pathogenic | Hemochromatosis type 4, Hemochromatosis type 4 |
| RS2105621916 | Health Risk | Likely pathogenic | Hemochromatosis type 4, Hemochromatosis type 4 |
| RS2105622062 | Health Risk | Likely pathogenic | Hemochromatosis type 4, Hemochromatosis type 4 |
| RS2105628182 | Health Risk | Likely pathogenic | Hemochromatosis type 4, Hemochromatosis type 4 |
| RS2105631709 | Health Risk | Likely pathogenic | Hemochromatosis type 4, Hemochromatosis type 4 |
| RS765023388 | Health Risk | Likely pathogenic | Hemochromatosis type 4, Hemochromatosis type 4 |
| RS770303749 | Health Risk | Likely pathogenic | Hemochromatosis type 4, Hemochromatosis type 4 |
| RS104893662 | Health Risk | Pathogenic | Hemochromatosis type 4, Hemochromatosis type 4, Hemochromatosis type 4 |
| RS104893664 | Health Risk | Pathogenic | Hemochromatosis type 4, Hemochromatosis type 4 |
| RS104893672 | Health Risk | Pathogenic | Hemochromatosis type 4, Hemochromatosis type 4 |
| RS104893673 | Health Risk | Pathogenic | Hemochromatosis type 4, Hemochromatosis type 4 |
| RS1060501102 | Health Risk | Pathogenic | Hemochromatosis type 4, SLC40A1-related disorder, Hemochromatosis type 4 |
| RS1227198230 | Health Risk | Pathogenic | Hemochromatosis type 4, Hemochromatosis type 4, Hemochromatosis type 4 |
| RS1423207026 | Health Risk | Pathogenic | Hemochromatosis type 4, Hemochromatosis type 4 |
| RS1553493234 | Health Risk | Pathogenic | Hemochromatosis type 4, Hemochromatosis type 4 |
| RS1553493479 | Health Risk | Pathogenic | Hemochromatosis type 4, Hemochromatosis type 4 |
| RS1553493481 | Health Risk | Pathogenic | Hemochromatosis type 4, Hemochromatosis type 4 |
| RS1553494286 | Health Risk | Pathogenic | Hemochromatosis type 4, Hemochromatosis type 4 |
| RS1553495699 | Health Risk | Pathogenic | Hemochromatosis type 4, Hemochromatosis type 4 |
| RS2030755066 | Health Risk | Pathogenic | Hemochromatosis type 4, Hemochromatosis type 4 |
| RS28939076 | Health Risk | Pathogenic | Hemochromatosis type 4, Hemochromatosis type 4 |
| RS1057521155 | Health Risk | Pathogenic/Likely pathogenic | Hemochromatosis type 4, Hemochromatosis type 4 |
| RS1449300685 | Health Risk | Pathogenic/Likely pathogenic | Hemochromatosis type 4, Hemochromatosis type 4 |
| RS200018415 | Health Risk | Pathogenic/Likely pathogenic | Hemochromatosis type 4, Hemochromatosis type 4 |
| RS387907374 | Health Risk | Pathogenic/Likely pathogenic | Hemochromatosis type 4, Hemochromatosis type 4 |
| RS387907377 | Health Risk | Pathogenic/Likely pathogenic | Hemochromatosis type 4, Hemochromatosis type 4 |
| RS878854984 | Health Risk | Pathogenic/Likely pathogenic | Hemochromatosis type 4, SLC40A1-related disorder, Hemochromatosis type 4 |