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 |
| ESR1 | 6q25.1-q25.2 | 133430 | REa, A | Estrogen resistance, 615363 (3) | 615363 | 3 |
| ESR1 | 6q25.1-q25.2 | 133430 | REa, A | {HDL response to hormone replacement, augmented} (3) | NA | NA |
| ESR1 | 6q25.1-q25.2 | 133430 | REa, A | {Migraine, susceptibility to}, 157300 (3) | 157300 | 3 |
| ESR1 | 6q25.1-q25.2 | 133430 | REa, A | {Atherosclerosis, susceptibility to} (3) | NA | NA |
| ESR1 | 6q25.1-q25.2 | 133430 | REa, A | {Myocardial infarction, susceptibility to}, 608446 (3) | 608446 | 3 |
| ESR1 | 6q25.1-q25.2 | 133430 | REa, A | {Breast cancer}, 114480 (1) | 114480 | 1 |