DNA Traits · Appearance
Eye pigmentation (OCA2 exon ten)
How much pigment the iris holds, from blue towards brown.
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Evidence · Replicated
What the research found
In the cited research, the T allele at rs1800404 was associated with lighter eye pigmentation.
- CC
- Darker range
- CT
- Middle
- TT
- Lighter range
Modest effect
What the study found
In the study, each copy went with eye colour score from blue to brown on a seven step survey scale about 0.41 points lower on average.
23andMe research participants of northern European ancestry · 4,402 people · Table 4 (Eye color, rs1800404); sample size Table 1
- Evidence
- Genome-wide association with independent replication in other ancestries
- Who was studied
- European ancestry (23andMe research participants), with replication in Latin American and African American cohorts
1000 Genomes Project
How common each genotype is
| Region | CCDarker range | CTMiddle | TTLighter range |
|---|---|---|---|
| All regions2,504 people | 41% | 37% | 23% |
| Africa661 people | 76% | 22% | 2% |
| The Americas347 people | 20% | 44% | 36% |
| East Asia504 people | 36% | 51% | 13% |
| Europe503 people | 6% | 30% | 63% |
| South Asia489 people | 48% | 42% | 10% |
Among the 2,504 people of the 1000 Genomes Project, in five world regions. These percentages describe groups of people, never anyone’s chance of having a trait.
Ancient genomes
Through time
How often the studied letter was read in ancient people, era by era, in the region chosen.
Region
Europe
| Before farmingbefore 6500 BC | 69%41 of 59 copies read |
|---|---|
| First farmers6500 to 3000 BC | 78%692 of 891 copies read |
| Bronze Age3000 to 1200 BC | 69%561 of 812 copies read |
| Iron Age and Antiquity1200 BC to AD 600 | 73%797 of 1,092 copies read |
| Middle AgesAD 600 to 1500 | 72%346 of 479 copies read |
| Today1000 Genomes | 79%791 of 1,006 copies |
Neanderthal and Denisovan genomes
- Altai Neanderthal
- No copies
- Vindija Neanderthal
- No copies
- Chagyrskaya Neanderthal
- No copies
- Denisovan
- 2 copies
rs1800404
The marker
- Gene or region
- OCA2 (synonymous variant in exon ten)
- Marker
- rs1800404
- Location
- Chromosome 15 · GRCh37 28,235,773 · GRCh38 27,990,627
- Letters studied
- C and T, with T as the studied allele
A DNA Traits report reads this marker in your raw DNA file and shows which of the three genotypes is yours, with how common it is. It counts the copies of the studied allele; it does not measure the trait itself.
- Marker
- OCA2 (synonymous variant in exon ten) · rs1800404
- Location
- Chromosome 15 · GRCh37 28,235,773 · GRCh38 27,990,627
- Studied allele
- T
- Published statistic
- beta 0.411 per the minor C allele toward brown, so 0.411 toward blue per T, score 14.47 (P about 3.4e-15), n 4,402 (Eriksson 2010 Table 4, within its replication of known eye colour loci); Adhikari 2019 in 6,357 Latin Americans: eye colour P 1.3e-11 and skin pigmentation P 5.0e-11 (Table 1); Batai 2021 in African Americans: skin reflectance (melanin index) beta 0.02 decrease per T, P 5e-8, and Lona-Durazo 2019: skin pigmentation conditioned on two known variants beta 0.137 decrease per T, P 9e-6 (both as curated in the GWAS Catalog) (Table 4 (Eye color, rs1800404); sample size Table 1)
- 1000 Genomes Project phase 3, people with 0, 1 and 2 copies
- All regions 1017 / 917 / 570 · Africa 504 / 146 / 11 · The Americas 69 / 154 / 124 · East Asia 180 / 259 / 65 · Europe 31 / 153 / 319 · South Asia 233 / 205 / 51
Limits
What it cannot tell you
One of several markers in the OCA2 and HERC2 block; in East Asian ancestry it largely stands in for the OCA2 H615R variant read on another card.
Web-based, participant-driven studies yield novel genetic associations for common traits (Eriksson et al., 2010)The same topic
More in Appearance
- Eye pigmentation
- Red hair association
- Blond hair association
- Hair shape
- Hair thickness association
- Skin pigmentation
- Freckling association
- Hair greying association
- Eyebrow thickness association
- Beard density association
- Unibrow association
- Nose bridge breadth association
- Nose wing breadth association
- Nose protrusion association
- Nose tip angle association
- Chin protrusion association
- Earlobe attachment association
- Earlobe size association
- Ear ridge folding association
- Male pattern hair loss
- Male pattern hair loss, HDAC9 marker
- Male pattern hair loss, EBF1 marker
- Male pattern hair loss, WNT10A marker
- Hair lightness, SLC24A4 marker
- Blond hair, TPCN2 marker
- Hair lightness, SLC45A2 marker
- Red hair, ASIP region marker
- Hair lightness, HERC2 marker
- Hair colour, IRF4 marker
- Hair shape, WNT10A marker
- Hair shape, PADI3 marker
- Hair shape, HOXC13 marker
- Hair shape, GATA3 region marker
- Hair shape, FRAS1 marker
- Hair shape, LCE3E marker
- Straight hair, EDAR marker
- Eyebrow thickness, FOXD1 region marker
- Eyebrow thickness, FOXL2 marker
- Shovel-shaped incisors
- Finger length ratio (SMOC1 marker)
- Finger length ratio (LDAH marker)
- Finger length ratio (SALL1 marker)
- Finger length ratio (OLA1 marker)
- Nose root position
- Nose wing breadth (PAX1 marker)
- Earlobe attachment (PAX9 marker)
- Earlobe attachment (KIAA1217 marker)
- Earlobe attachment (MRPS22 marker)
- Fingerprint whorls (ADAMTS9 marker)
- Fingerprint whorls (EVI1 marker)
- Fingerprint whorls (SALL3 marker)
- Green or hazel eyes
- Eye pigmentation (TYR)
- Freckling (TYR)
- Skin pigmentation (OCA2 H615R)
- Freckling (PPARGC1B)
- Freckling (HSPA12A)
- Freckling (BNC2)
- Freckling (EMX2)
- Freckling (EIF6, ASIP region)
- Skin lightness (OCA2 A481T)
- Eye pigmentation (TSPAN10)
- Eye pigmentation (TYRP1)
- Eye pigmentation (SLC24A4)
- Eye pigmentation (SIK1)
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