Trait
Abnormal color vision
Clinical name: Color vision defect
An anomaly in the ability to discriminate between or recognize colors.
Summary
- Also called
- Abnormality of color vision, Color vision defect, severe, Color vision defects, Abnormal colour vision, Abnormality of colour vision, Colour vision defect, Disturbed color vision, Disturbed colour vision
- Body system
- Abnormality of the eye
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Abnormal color vision, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome Test213 genes linked to Abnormal color vision
Changes in these genes cause rare conditions in which Abnormal color vision 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 |
|---|---|---|
| ABCA4ATP binding cassette subfamily A member 4 | Always | In 4 conditions |
| CRXcone-rod homeobox | Always | In 3 conditions |
| PDXKpyridoxal kinase | Always | In 1 condition |
| RLBP1retinaldehyde binding protein 1 | Always | In 3 conditions |
| RPGRIP1RPGR interacting protein 1 | Always | In 3 conditions |
| RTN4IP1reticulon 4 interacting protein 1 | Always | In 1 condition |
| TULP1TUB like protein 1 | Always | In 2 conditions |
| UBAP1Lubiquitin associated protein 1 like | Always | In 2 conditions |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Very often (80–99%) | In 1 condition |
| ATF6activating transcription factor 6 | Very often (80–99%) | In 2 conditions |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Very often (80–99%) | In 3 conditions |
| CNGA3cyclic nucleotide gated channel subunit alpha 3 | Very often (80–99%) | In 2 conditions |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Very often (80–99%) | In 3 conditions |
| CNNM4cyclin and CBS domain divalent metal cation transport mediator 4 | Very often (80–99%) | In 1 condition |
| ELOVL4ELOVL fatty acid elongase 4 | Very often (80–99%) | In 1 condition |
| GNAT2G protein subunit alpha transducin 2 | Very often (80–99%) | In 2 conditions |
| GUCA1Aguanylate cyclase activator 1A | Very often (80–99%) | In 2 conditions |
| PDE6Cphosphodiesterase 6C | Very often (80–99%) | In 2 conditions |
| PDE6Hphosphodiesterase 6H | Very often (80–99%) | In 1 condition |
| PROM1prominin 1 | Very often (80–99%) | In 4 conditions |
| PRPH2peripherin 2 | Very often (80–99%) | In 5 conditions |
| RPGRretinitis pigmentosa GTPase regulator | Very often (80–99%) | In 5 conditions |
| ADAM9ADAM metallopeptidase domain 9 | Often (30–79%) | In 1 condition |
| AIPL1AIP like 1 HSP90 co-chaperone | Often (30–79%) | In 1 condition |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Often (30–79%) | In 2 conditions |
| ALMS1ALMS1 centrosome and basal body associated protein | Often (30–79%) | In 1 condition |
| ARL6ARF like GTPase 6 | Often (30–79%) | In 2 conditions |
| BBIP1BBSome interacting protein 1 | Often (30–79%) | In 1 condition |
| BBS1Bardet-Biedl syndrome 1 | Often (30–79%) | In 2 conditions |
| BBS10Bardet-Biedl syndrome 10 | Often (30–79%) | In 1 condition |
| BBS12Bardet-Biedl syndrome 12 | Often (30–79%) | In 1 condition |
| BBS2Bardet-Biedl syndrome 2 | Often (30–79%) | In 2 conditions |
| BBS4Bardet-Biedl syndrome 4 | Often (30–79%) | In 1 condition |
| BBS5Bardet-Biedl syndrome 5 | Often (30–79%) | In 1 condition |
| BBS7Bardet-Biedl syndrome 7 | Often (30–79%) | In 1 condition |
| BBS9Bardet-Biedl syndrome 9 | Often (30–79%) | In 1 condition |
| BEST1bestrophin 1 | Often (30–79%) | In 4 conditions |
| CABP4calcium binding protein 4 | Often (30–79%) | In 2 conditions |
| CACNA2D4calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Often (30–79%) | In 1 condition |
| CDHR1cadherin related family member 1 | Often (30–79%) | In 3 conditions |
Show 173 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| CEP19centrosomal protein 19 | Often (30–79%) | In 1 condition |
| CEP290centrosomal protein 290 | Often (30–79%) | In 1 condition |
| CFAP410cilia and flagella associated protein 410 | Often (30–79%) | In 1 condition |
| CFAP418cilia and flagella associated protein 418 | Often (30–79%) | In 3 conditions |
| DNM1Ldynamin 1L | Often (30–79%) | In 1 condition |
| DRAM2DNA damage regulated autophagy modulator 2 | Often (30–79%) | In 1 condition |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Often (30–79%) | In 2 conditions |
| GUCY2Dguanylate cyclase 2D, retinal | Often (30–79%) | In 1 condition |
| IFT172intraflagellar transport 172 | Often (30–79%) | In 2 conditions |
| IFT27intraflagellar transport 27 | Often (30–79%) | In 1 condition |
| IFT74intraflagellar transport 74 | Often (30–79%) | In 1 condition |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Often (30–79%) | In 2 conditions |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Often (30–79%) | In 2 conditions |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Often (30–79%) | In 1 condition |
| LCA5lebercilin LCA5 | Often (30–79%) | In 1 condition |
| LRATlecithin retinol acyltransferase | Often (30–79%) | In 2 conditions |
| LZTFL1leucine zipper transcription factor like 1 | Often (30–79%) | In 1 condition |
| MFSD8major facilitator superfamily domain containing 8 | Often (30–79%) | In 1 condition |
| MKKSMKKS centrosomal shuttling protein | Often (30–79%) | In 1 condition |
| MKS1MKS transition zone complex subunit 1 | Often (30–79%) | In 1 condition |
| MTTPmicrosomal triglyceride transfer protein | Often (30–79%) | In 1 condition |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Often (30–79%) | In 2 conditions |
| NPHP1nephrocystin 1 | Often (30–79%) | In 1 condition |
| OFD1OFD1 centriole and centriolar satellite protein | Often (30–79%) | In 2 conditions |
| OPA1OPA1 mitochondrial dynamin like GTPase | Often (30–79%) | In 1 condition |
| OPN1LWopsin 1, long wave sensitive | Often (30–79%) | In 2 conditions |
| OPN1MWopsin 1, medium wave sensitive | Often (30–79%) | In 2 conditions |
| OTX2orthodenticle homeobox 2 | Often (30–79%) | In 1 condition |
| PITPNM3PITPNM family member 3 | Often (30–79%) | In 2 conditions |
| POC1BPOC1 centriolar protein B | Often (30–79%) | In 1 condition |
| PPIBpeptidylprolyl isomerase B | Often (30–79%) | In 1 condition |
| RAB28RAB28, member RAS oncogene family | Often (30–79%) | In 1 condition |
| RAX2retina and anterior neural fold homeobox 2 | Often (30–79%) | In 1 condition |
| RIMS1regulating synaptic membrane exocytosis 1 | Often (30–79%) | In 1 condition |
| RPE65retinoid isomerohydrolase RPE65 | Often (30–79%) | In 2 conditions |
| SCAPERS-phase cyclin A associated protein in the ER | Often (30–79%) | In 2 conditions |
| SCLT1sodium channel and clathrin linker 1 | Often (30–79%) | In 1 condition |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Often (30–79%) | In 1 condition |
| SEMA4Asemaphorin 4A | Often (30–79%) | In 2 conditions |
| SPATA7spermatogenesis associated 7 | Often (30–79%) | In 2 conditions |
| TLCD3BTLC domain containing 3B | Often (30–79%) | In 1 condition |
| TRIM32tripartite motif containing 32 | Often (30–79%) | In 1 condition |
| TTC8tetratricopeptide repeat domain 8 | Often (30–79%) | In 2 conditions |
| TTLL5tubulin tyrosine ligase like 5 | Often (30–79%) | In 1 condition |
| UNC119unc-119 lipid binding chaperone | Often (30–79%) | In 2 conditions |
| WDPCPWD repeat containing planar cell polarity effector | Often (30–79%) | In 1 condition |
| ADGRV1adhesion G protein-coupled receptor V1 | Sometimes (5–29%) | In 1 condition |
| AGBL5AGBL carboxypeptidase 5 | Sometimes (5–29%) | In 1 condition |
| AHI1Abelson helper integration site 1 | Sometimes (5–29%) | In 1 condition |
| AHRaryl hydrocarbon receptor | Sometimes (5–29%) | In 1 condition |
| ANOS1anosmin 1 | Sometimes (5–29%) | In 1 condition |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Sometimes (5–29%) | In 1 condition |
| ARL2BPARF like GTPase 2 binding protein | Sometimes (5–29%) | In 1 condition |
| ARL3ARF like GTPase 3 | Sometimes (5–29%) | In 1 condition |
| CA4carbonic anhydrase 4 | Sometimes (5–29%) | In 1 condition |
| CC2D2Acoiled-coil and C2 domain containing 2A | Sometimes (5–29%) | In 1 condition |
| CCDC141coiled-coil domain containing 141 | Sometimes (5–29%) | In 1 condition |
| CERKLCERK like autophagy regulator | Sometimes (5–29%) | In 1 condition |
| CFAP20cilia and flagella associated protein 20 | Sometimes (5–29%) | In 1 condition |
| CHD7chromodomain helicase DNA binding protein 7 | Sometimes (5–29%) | In 1 condition |
| CHMCHM Rab escort protein | Sometimes (5–29%) | In 1 condition |
| CLRN1clarin 1 | Sometimes (5–29%) | In 1 condition |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Sometimes (5–29%) | In 1 condition |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Sometimes (5–29%) | In 1 condition |
| COQ8Bcoenzyme Q8B | Sometimes (5–29%) | In 1 condition |
| CRB1crumbs cell polarity complex component 1 | Sometimes (5–29%) | In 1 condition |
| CYP4V2cytochrome P450 family 4 subfamily V member 2 | Sometimes (5–29%) | In 1 condition |
| DCCDCC netrin 1 receptor | Sometimes (5–29%) | In 1 condition |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Sometimes (5–29%) | In 1 condition |
| DHX38DEAH-box helicase 38 | Sometimes (5–29%) | In 1 condition |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Sometimes (5–29%) | In 1 condition |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Sometimes (5–29%) | In 1 condition |
| DUSP6dual specificity phosphatase 6 | Sometimes (5–29%) | In 1 condition |
| EMX2empty spiracles homeobox 2 | Sometimes (5–29%) | In 1 condition |
| EYSEGF-like photoreceptor maintenance factor | Sometimes (5–29%) | In 1 condition |
| FAM161AFAM161 centrosomal protein A | Sometimes (5–29%) | In 1 condition |
| FEZF1FEZ family zinc finger 1 | Sometimes (5–29%) | In 1 condition |
| FGF17fibroblast growth factor 17 | Sometimes (5–29%) | In 1 condition |
| FGF8fibroblast growth factor 8 | Sometimes (5–29%) | In 1 condition |
| FGFR1fibroblast growth factor receptor 1 | Sometimes (5–29%) | In 1 condition |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Sometimes (5–29%) | In 1 condition |
| FSCN2fascin actin-bundling protein 2, retinal | Sometimes (5–29%) | In 1 condition |
| GUCA1Bguanylate cyclase activator 1B | Sometimes (5–29%) | In 1 condition |
| HESX1HESX homeobox 1 | Sometimes (5–29%) | In 1 condition |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Sometimes (5–29%) | In 2 conditions |
| HKDC1hexokinase domain containing 1 | Sometimes (5–29%) | In 1 condition |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Sometimes (5–29%) | In 1 condition |
| HTRA2HtrA serine peptidase 2 | Sometimes (5–29%) | In 1 condition |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Sometimes (5–29%) | In 1 condition |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Sometimes (5–29%) | In 1 condition |
| IFT140intraflagellar transport 140 | Sometimes (5–29%) | In 1 condition |
| IFT43intraflagellar transport 43 | Sometimes (5–29%) | In 1 condition |
| IFT88intraflagellar transport 88 | Sometimes (5–29%) | In 1 condition |
| IL17RDinterleukin 17 receptor D | Sometimes (5–29%) | In 1 condition |
| IMPDH1inosine monophosphate dehydrogenase 1 | Sometimes (5–29%) | In 1 condition |
| KIAA1549KIAA1549 | Sometimes (5–29%) | In 1 condition |
| KIZkizuna centrosomal protein | Sometimes (5–29%) | In 1 condition |
| KLHL7kelch like family member 7 | Sometimes (5–29%) | In 1 condition |
| LRRK2leucine rich repeat kinase 2 | Sometimes (5–29%) | In 1 condition |
| MAKmale germ cell associated kinase | Sometimes (5–29%) | In 1 condition |
| MERTKMER proto-oncogene, tyrosine kinase | Sometimes (5–29%) | In 1 condition |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Sometimes (5–29%) | In 1 condition |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Sometimes (5–29%) | In 1 condition |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Sometimes (5–29%) | In 1 condition |
| MT-CYBmitochondrially encoded cytochrome b | Sometimes (5–29%) | In 1 condition |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Sometimes (5–29%) | In 1 condition |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Sometimes (5–29%) | In 1 condition |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Sometimes (5–29%) | In 1 condition |
| MT-ND4Lmitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Sometimes (5–29%) | In 1 condition |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Sometimes (5–29%) | In 1 condition |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Sometimes (5–29%) | In 1 condition |
| MYO7Amyosin VIIA | Sometimes (5–29%) | In 1 condition |
| NDNFneuron derived neurotrophic factor | Sometimes (5–29%) | In 1 condition |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Sometimes (5–29%) | In 1 condition |
| NEK2NIMA related kinase 2 | Sometimes (5–29%) | In 1 condition |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Sometimes (5–29%) | In 1 condition |
| NRLneural retina leucine zipper | Sometimes (5–29%) | In 1 condition |
| PARK7Parkinsonism associated deglycase | Sometimes (5–29%) | In 1 condition |
| PCAREphotoreceptor cilium actin regulator | Sometimes (5–29%) | In 1 condition |
| PDE6Aphosphodiesterase 6A | Sometimes (5–29%) | In 1 condition |
| PDE6Bphosphodiesterase 6B | Sometimes (5–29%) | In 1 condition |
| PDE6Gphosphodiesterase 6G | Sometimes (5–29%) | In 1 condition |
| PDZD7PDZ domain containing 7 | Sometimes (5–29%) | In 1 condition |
| PINK1PTEN induced kinase 1 | Sometimes (5–29%) | In 1 condition |
| PODXLpodocalyxin like | Sometimes (5–29%) | In 1 condition |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Sometimes (5–29%) | In 1 condition |
| PRCDphotoreceptor disc component | Sometimes (5–29%) | In 1 condition |
| PRKNparkin RBR E3 ubiquitin protein ligase | Sometimes (5–29%) | In 1 condition |
| PROK2prokineticin 2 | Sometimes (5–29%) | In 1 condition |
| PROKR2prokineticin receptor 2 | Sometimes (5–29%) | In 1 condition |
| PRPF3pre-mRNA processing factor 3 | Sometimes (5–29%) | In 1 condition |
| PRPF31pre-mRNA processing factor 31 | Sometimes (5–29%) | In 1 condition |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Sometimes (5–29%) | In 1 condition |
| PRPF6pre-mRNA processing factor 6 | Sometimes (5–29%) | In 1 condition |
| PRPF8pre-mRNA processing factor 8 | Sometimes (5–29%) | In 1 condition |
| RBP3retinol binding protein 3 | Sometimes (5–29%) | In 1 condition |
| RDH12retinol dehydrogenase 12 | Sometimes (5–29%) | In 1 condition |
| REEP6receptor accessory protein 6 | Sometimes (5–29%) | In 1 condition |
| RGRretinal G protein coupled receptor | Sometimes (5–29%) | In 1 condition |
| RHOrhodopsin | Sometimes (5–29%) | In 1 condition |
| RNU4-2RNA, U4 small nuclear 2 | Sometimes (5–29%) | In 1 condition |
| RNU6-1RNA, U6 small nuclear 1 | Sometimes (5–29%) | In 1 condition |
| RNU6-2RNA, U6 small nuclear 2 | Sometimes (5–29%) | In 1 condition |
| RNU6-8RNA, U6 small nuclear 8 | Sometimes (5–29%) | In 1 condition |
| RNU6-9RNA, U6 small nuclear 9 | Sometimes (5–29%) | In 1 condition |
| ROM1retinal outer segment membrane protein 1 | Sometimes (5–29%) | In 1 condition |
| RP1RP1 axonemal microtubule associated | Sometimes (5–29%) | In 1 condition |
| RP1L1RP1 like 1 | Sometimes (5–29%) | In 1 condition |
| RP2RP2 activator of ARL3 GTPase | Sometimes (5–29%) | In 1 condition |
| RP9RP9 pre-mRNA splicing factor | Sometimes (5–29%) | In 1 condition |
| SAGS-antigen visual arrestin | Sometimes (5–29%) | In 1 condition |
| SAXO6stabilizer of axonemal microtubules 6 | Sometimes (5–29%) | In 1 condition |
| SEMA3Asemaphorin 3A | Sometimes (5–29%) | In 1 condition |
| SLC7A14solute carrier family 7 member 14 | Sometimes (5–29%) | In 1 condition |
| SNCAsynuclein alpha | Sometimes (5–29%) | In 1 condition |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Sometimes (5–29%) | In 1 condition |
| SOX10SRY-box transcription factor 10 | Sometimes (5–29%) | In 1 condition |
| SPRY4sprouty RTK signaling antagonist 4 | Sometimes (5–29%) | In 1 condition |
| SYNJ1synaptojanin 1 | Sometimes (5–29%) | In 1 condition |
| TACR3tachykinin receptor 3 | Sometimes (5–29%) | In 1 condition |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Sometimes (5–29%) | In 1 condition |
| TMEM216transmembrane protein 216 | Sometimes (5–29%) | In 1 condition |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Sometimes (5–29%) | In 1 condition |
| TUBTUB bipartite transcription factor | Sometimes (5–29%) | In 1 condition |
| UCHL1ubiquitin C-terminal hydrolase L1 | Sometimes (5–29%) | In 1 condition |
| USH2Ausherin | Sometimes (5–29%) | In 2 conditions |
| VPS13Cvacuolar protein sorting 13 homolog C | Sometimes (5–29%) | In 1 condition |
| WDR11WD repeat domain 11 | Sometimes (5–29%) | In 1 condition |
| WHRNwhirlin | Sometimes (5–29%) | In 1 condition |
| ZNF408zinc finger protein 408 | Sometimes (5–29%) | In 1 condition |
| ZNF513zinc finger protein 513 | Sometimes (5–29%) | In 1 condition |
| MFN2mitofusin 2 | Not recorded | In 1 condition |
| OPN1SWopsin 1, short wave sensitive | 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.
Narrower traits
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.
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks