rs72697297
This is a regulatory region variant variant in the RIN3 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
body fat percentage
Martin S et al. “Genetic Evidence for Different Adiposity Phenotypes and Their Opposing Influences on Ectopic Fat and Risk of Cardiometabolic Disease.” Diabetes 70(8):1843-1856 (2021)
Allele T
OR —
β 0.015
p 8.0e-15
N 442,278
Large GWAS
European
aspartate aminotransferase measurement, low density lipoprotein triglyceride measurement, serum alanine aminotransferase amount, body fat percentage, high density lipoprotein cholesterol measurement, sex hormone-binding globulin measurement
Martin S et al. “Genetic Evidence for Different Adiposity Phenotypes and Their Opposing Influences on Ectopic Fat and Risk of Cardiometabolic Disease.” Diabetes 70(8):1843-1856 (2021)
Allele T
OR —
p 6.0e-11
N 389,354
Large GWAS
European
level of protein AMBP in blood
Kalnapenkis A et al. “Genetic determinants of plasma protein levels in the Estonian population.” Scientific Reports 14(1):7694 (2024)
Allele C
OR 0.40
p 2.0e-8
N 497
Small 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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