Trait
Fair skin
Clinical name: Generalized hypopigmentation
Summary
- Also called
- Pale pigmentation, Generalised hypopigmentation
- Body system
- Abnormality of the integument
Reference genomeGRCh38hg38
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Get my Genome Test20 genes linked to Fair skin
Changes in these genes cause rare conditions in which Fair skin is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| AP3B1adaptor related protein complex 3 subunit beta 1 | Always | In 1 condition |
| MITFmelanocyte inducing transcription factor | Always | In 2 conditions |
| SLC24A5solute carrier family 24 member 5 | Always | In 1 condition |
| ZPR1ZPR1 zinc finger | Always | In 1 condition |
| LYSTlysosomal trafficking regulator | Very often (80–99%) | In 1 condition |
| BLOC1S3biogenesis of lysosomal organelles complex 1 subunit 3 | Often (30–79%) | In 1 condition |
| KRT5keratin 5 | Often (30–79%) | In 1 condition |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Often (30–79%) | In 1 condition |
| TP63tumor protein p63 | Often (30–79%) | In 2 conditions |
| SKIC3SKI3 subunit of superkiller complex | Sometimes (5–29%) | In 2 conditions |
| SKIC2SKI2 subunit of superkiller complex | Rarely (1–4%) | In 1 condition |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Not recorded | In 1 condition |
| MAGEL2MAGE family member L2 | Not recorded | In 1 condition |
| MKRN3makorin ring finger protein 3 | Not recorded | In 1 condition |
| NPAP1nuclear pore associated protein 1 | Not recorded | In 1 condition |
| PAHphenylalanine hydroxylase | Not recorded | In 1 condition |
| PWAR1Prader Willi/Angelman region RNA 1 | Not recorded | In 1 condition |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Not recorded | In 1 condition |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Not recorded | In 1 condition |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
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Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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