rs754388

This variant is located in the RIN3 gene.

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GWAS Catalog Trait Associations (9)

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

chronic obstructive pulmonary disease

Hobbs BD et al. “Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis.” Nature Genetics 49(3):426-432 (2017)
Allele C
OR 1.15
p 5.0e-14
N 58,918
Large GWAS
multi-ancestry
Cho MH et al. “Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis.” The Lancet. Respiratory Medicine 2(3):214-25 (2014)
Allele C
OR —
p 5.0e-9
N 12,337
Meta-analysisLarge GWAS
multi-ancestry

BMI-adjusted hip circumference

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele G
OR 0.03
p 1.0e-11
N 186,825
Major Consortium StudyLarge GWAS
European

forced expiratory volume, 25-hydroxyvitamin D3 measurement

Seo J et al. “Exploiting meta-analysis of genome-wide interaction with serum 25-hydroxyvitamin D to identify novel genetic loci associated with pulmonary function.” The American Journal of Clinical Nutrition 119(5):1227-1237 (2024)
Allele G
OR —
p 1.0e-8
N 95,952
Meta-analysisLarge GWAS
multi-ancestry

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele G
OR 0.00
p 2.0e-8
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian

bone tissue density, lean body mass

Medina-Gomez C et al. “Bivariate genome-wide association meta-analysis of pediatric musculoskeletal traits reveals pleiotropic effects at the SREBF1/TOM1L2 locus.” Nature Communications 8(1):121 (2017)
Allele G
OR —
p 3.0e-8
N 10,414
Meta-analysisLarge GWAS
European, NR

monocyte 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 9.0e-34
N 639,696
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 1.0e-20
N 408,112
Large GWAS
European
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.03
p 9.0e-28
N 394,642
Large GWAS
European

About RIN3

Summary: This protein encoded by this gene is a member of the RIN family of Ras interaction-interference proteins, which are binding partners to the RAB5 small GTPases. The protein functions as a guanine nucleotide exchange for RAB5B and RAB31. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

View all RIN3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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