Trait
Blue eyes
Clinical name: Blue irides
A markedly blue coloration of the iris.
Summary
- Body system
- Abnormality of the eye
Reference genomeGRCh38hg38
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Get my Genome Test57 genes linked to Blue eyes
Changes in these genes cause rare conditions in which Blue eyes 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 |
|---|---|---|
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Always | In 2 conditions |
| KITLGKIT ligand | Always | In 1 condition |
| KRASKRas proto-oncogene, GTPase | Always | In 2 conditions |
| MAP2K1mitogen-activated protein kinase kinase 1 | Always | In 1 condition |
| MAP2K2mitogen-activated protein kinase kinase 2 | Always | In 1 condition |
| MITFmelanocyte inducing transcription factor | Always | In 1 condition |
| PAX3paired box 3 | Always | In 2 conditions |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Always | In 2 conditions |
| SOX10SRY-box transcription factor 10 | Always | In 3 conditions |
| CBLCbl proto-oncogene | Often (30–79%) | In 1 condition |
| ELNelastin | Often (30–79%) | In 2 conditions |
| LZTR1leucine zipper like post translational regulator 1 | Often (30–79%) | In 1 condition |
| MC1Rmelanocortin 1 receptor | Often (30–79%) | In 2 conditions |
| MLXIPLMLX interacting protein like | Often (30–79%) | In 1 condition |
| MRASmuscle RAS oncogene homolog | Often (30–79%) | In 1 condition |
| NRASNRAS proto-oncogene, GTPase | Often (30–79%) | In 1 condition |
| OCA2OCA2 melanosomal transmembrane protein | Often (30–79%) | In 2 conditions |
| PRR12proline rich 12 | Often (30–79%) | In 1 condition |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Often (30–79%) | In 1 condition |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Often (30–79%) | In 1 condition |
| RASA2RAS p21 protein activator 2 | Often (30–79%) | In 1 condition |
| RIT1Ras like without CAAX 1 | Often (30–79%) | In 1 condition |
| RLIMring finger protein, LIM domain interacting | Often (30–79%) | In 1 condition |
| RRASRAS related | Often (30–79%) | In 1 condition |
| RRAS2RAS related 2 | Often (30–79%) | In 1 condition |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Often (30–79%) | In 1 condition |
| SPRED2sprouty related EVH1 domain containing 2 | Often (30–79%) | In 1 condition |
| TYRP1tyrosinase related protein 1 | Often (30–79%) | In 2 conditions |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Sometimes (5–29%) | In 1 condition |
| BLOC1S3biogenesis of lysosomal organelles complex 1 subunit 3 | Sometimes (5–29%) | In 1 condition |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Sometimes (5–29%) | In 1 condition |
| CLIP2CAP-Gly domain containing linker protein 2 | Sometimes (5–29%) | In 1 condition |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Sometimes (5–29%) | In 1 condition |
| EIF4Heukaryotic translation initiation factor 4H | Sometimes (5–29%) | In 1 condition |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Sometimes (5–29%) | In 1 condition |
| GTF2Igeneral transcription factor IIi | Sometimes (5–29%) | In 1 condition |
| GTF2IRD1GTF2I repeat domain containing 1 | Sometimes (5–29%) | In 1 condition |
| GTF2IRD2GTF2I repeat domain containing 2 | Sometimes (5–29%) | In 1 condition |
| LIMK1LIM domain kinase 1 | Sometimes (5–29%) | In 1 condition |
| MAPK1mitogen-activated protein kinase 1 | Sometimes (5–29%) | In 1 condition |
Show 17 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| METTL27methyltransferase like 27 | Sometimes (5–29%) | In 1 condition |
| NCF1neutrophil cytosolic factor 1 | Sometimes (5–29%) | In 1 condition |
| RFC2replication factor C subunit 2 | Sometimes (5–29%) | In 1 condition |
| STX1Asyntaxin 1A | Sometimes (5–29%) | In 1 condition |
| TBL2transducin beta like 2 | Sometimes (5–29%) | In 1 condition |
| TMEM270transmembrane protein 270 | Sometimes (5–29%) | In 1 condition |
| VPS37DVPS37D subunit of ESCRT-I | Sometimes (5–29%) | In 1 condition |
| EDN3endothelin 3 | Not recorded | In 1 condition |
| EDNRBendothelin receptor type B | Not recorded | In 1 condition |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Not recorded | In 1 condition |
| PAHphenylalanine hydroxylase | Not recorded | In 1 condition |
| PDE4Dphosphodiesterase 4D | Not recorded | In 1 condition |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Not recorded | In 1 condition |
| SLC45A2solute carrier family 45 member 2 | Not recorded | In 1 condition |
| TP63tumor protein p63 | Not recorded | In 1 condition |
| TYRtyrosinase | Not recorded | In 1 condition |
| UBE3Aubiquitin protein ligase E3A | 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.
Broader traits
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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