rs8037137

This is a regulatory region variant variant in the RCCD1 gene.

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GWAS Catalog Trait Associations (4)

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

Red cell distribution width

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 T
OR 0.12
p 1.0e-206
N 380,796
Major Consortium StudyLarge GWAS
European

platelet count

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele C
OR —
p 3.0e-30
N 721,201
Large GWAS
multi-ancestry
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.03
p 6.0e-18
N 408,112
Large GWAS
European
Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele C
OR 0.04
p 8.0e-11
N 166,066
Large GWAS
European

HbA1c measurement

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 T
OR 0.03
p 2.0e-14
N 492,335
Major Consortium StudyLarge GWAS
multi-ancestry
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Research that mentions this SNP (1)

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A comprehensive gene–environment interaction analysis in Ovarian Cancer using genome‐wide significant common variants
AssociationN=25,537Sehee Kim et al.(2019)· International Journal of Cancer

A comprehensive gene-environment interaction study in ovarian cancer examining 28 genome-wide significant variants and 7 environmental risk factors (oral contraceptive use, parity, tubal ligation, breastfeeding, menopausal hormone therapy, BMI, endometriosis) in 9,971 cases and 15,566 controls. The strongest multiplicative interaction identified was between rs13255292 and OCP use (P = 3.48 × 10⁻⁴), with differential protective effects by genotype and duration of use, though no interactions remained significant after multiple testing correction.

Traits studied:Epithelial ovarian cancerFallopian tube cancerOvarian cancerPrimary peritoneal cancer
PubMedDOIMetascience Observatory

About RCCD1

Predicted to be involved in chromatin organization. Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

View all RCCD1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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