rs12898729

This variant is located in the HERC2 gene.

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GWAS Catalog Trait Associations (5)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

rosacea

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.12
p 3.0e-14
N 442,187
Major Consortium StudyLarge GWAS
European

benign neoplasm of eye

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.38
p 2.0e-12
N 59,198
Major Consortium StudyLarge GWAS
Hispanic or Latin American

skin disease

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.08
p 6.0e-12
N 421,291
Major Consortium StudyLarge GWAS
European

body height

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele A
OR 0.01
p 3.0e-8
N 928,679
Large GWAS
multi-ancestry

eye colour measurement

Jonnalagadda M et al. “A Genome-Wide Association Study of Skin and Iris Pigmentation among Individuals of South Asian Ancestry.” Genome Biology and Evolution 11(4):1066-1076 (2019)
Allele A
OR 0.79
p 4.0e-11
N 329
Small GWAS
South Asian

About HERC2

This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 and 16. [provided by RefSeq, Mar 2012]

View all HERC2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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