* Phenotype mapping Key
1 => The disorder is placed on the map based on its association with a gene, but the underlying defect is not known
2 => The disorder has been placed on the map by linkage; no mutation has been found
3 => The molecular basis for the disorder is known; a mutation has been found in the gene
4 => A contiguous gene deletion or duplication syndrome, multiple genes are deleted or duplicated causing the phenotype
| Gene Symbol | Chromosomal Location | Gene MIM number | Mapping Method | Phenotype | Phenotype MIM number | Phenotype Mapping Key |
| SLC4A1 | 17q21.31 | 109270 | REa, RE, Fd, A | Ovalocytosis, SA type, 166900 (3) | 166900 | 3 |
| SLC4A1 | 17q21.31 | 109270 | REa, RE, Fd, A | Spherocytosis, type 4, 612653 (3) | 612653 | 3 |
| SLC4A1 | 17q21.31 | 109270 | REa, RE, Fd, A | [Malaria, resistance to], 611162 (3) | 611162 | 3 |
| SLC4A1 | 17q21.31 | 109270 | REa, RE, Fd, A | Renal tubular acidosis, distal, AD, 179800 (3) | 179800 | 3 |
| SLC4A1 | 17q21.31 | 109270 | REa, RE, Fd, A | Renal tubular acidosis, distal, AR, 611590 (3) | 611590 | 3 |
| SLC4A1 | 17q21.31 | 109270 | REa, RE, Fd, A | [Blood group, Diego], 110500 (3) | 110500 | 3 |
| SLC4A1 | 17q21.31 | 109270 | REa, RE, Fd, A | [Blood group, Waldner], 112010 (3) | 112010 | 3 |
| SLC4A1 | 17q21.31 | 109270 | REa, RE, Fd, A | [Blood group, Wright], 112050 (3) | 112050 | 3 |
| SLC4A1 | 17q21.31 | 109270 | REa, RE, Fd, A | [Blood group, Froese], 601551 (3) | 601551 | 3 |
| SLC4A1 | 17q21.31 | 109270 | REa, RE, Fd, A | [Blood group, Swann], 601550 (3) | 601550 | 3 |
| SLC4A1 | 17q21.31 | 109270 | REa, RE, Fd, A | Cryohydrocytosis, 185020 (3) | 185020 | 3 |