At a minimum, these SNPs are known to be related, and others may also be
| Max Magnitude | |
|---|---|
| rs121434287 | 3 |
| rs121434288 | 3 |
| rs121434289 | 3 |
| rs121434290 | 3 |
| rs121434291 | 3 |
| rs121434292 | 3 |
| rs121434293 | 3 |
| rs17855765 | 0 |
| rs2280838 | 0 |
Mutations in the SLC39A4 gene may lead to acrodermatitis enteropathica, an autosomal recessive metabolic disorder affecting the uptake of zinc through the inner lining of the bowel, the mucous membrane. It is characterized by inflammation of the skin (dermatitis) around bodily openings (periorificial) and the tips of fingers and toes (acral), hair loss (alopecia), and diarrhea. Other names for acrodermatitis enteropathica include Brandt syndrome and Danbolt–Cross syndrome.Wikipedia
A ClinGen Actionability summary (see Actionability (ClinGen)) providing recommendations for individuals with SLC39A4 mutations is available here.
