rs1667392

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.

degeneration of macula and posterior pole

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 0.10
p 9.0e-20
N 426,887
Major Consortium StudyLarge GWAS
European

Abnormality of skin pigmentation

Liu F et al. “Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up.” Human Genetics 134(8):823-35 (2015)
Allele G
OR —
β 0.010
p 4.0e-14
N 5,857
Large GWAS
European

actinic keratosis

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 0.39
p 6.0e-14
N 57,813
Major Consortium StudyLarge GWAS
Hispanic or Latin American

uveitis

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 0.42
p 1.0e-13
N 120,251
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean

skin pigmentation

Lona-Durazo F et al. “Meta-analysis of GWA studies provides new insights on the genetic architecture of skin pigmentation in recently admixed populations.” Bmc Genetics 20(1):59 (2019)
Allele C
OR 0.27
p 5.0e-9
N 2,104
Meta-analysis
multi-ancestry

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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