rs3729931

This is a downstream gene variant variant in the RAF1 gene.

▶

GWAS Catalog Trait Associations (8)

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

body composition measurement

Wu Z et al. “Genetic architecture of bone marrow fat fraction implies its involvement in osteoporosis risk.” Nature Communications 16(1):7490 (2025)
Allele A
OR 0.07
p 3.0e-20
N 39,172
Large GWAS
European

HbA1c measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.02
p 3.0e-20
N 338,919
Major Consortium StudyLarge GWAS
multi-ancestry

total cholesterol measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.02
p 6.0e-15
N 355,858
Major Consortium StudyLarge 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 A
OR 0.02
p 2.0e-12
N 219,872
Major Consortium StudyLarge GWAS
European

low density lipoprotein cholesterol measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.02
p 3.0e-12
N 355,197
Major Consortium StudyLarge GWAS
multi-ancestry

sex hormone-binding globulin measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.02
p 3.0e-12
N 322,484
Major Consortium StudyLarge GWAS
multi-ancestry

apolipoprotein B measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.02
p 6.0e-12
N 354,097
Major Consortium StudyLarge GWAS
multi-ancestry

systolic blood pressure

Koskeridis F et al. “Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits.” Nature Communications 15(1):9827 (2024)
Allele A
OR 0.01
p 2.0e-8
N 1,212,859
Large GWAS
European
▶

ClinVar annotation

Benign★★★☆
3 submitters1 publication

not specified

View on ClinVar →
▶

Research that mentions this SNP (1)

▶
Genetic variants in Ras/Raf/MEK/ERK pathway are associated with gastric cancer risk in Chinese Han population
AssociationN=3,725Xiaowei Wang et al.(2020)· Archives of Toxicology

Pathway-based GWAS in 1625 Chinese Han gastric cancer cases and 2100 controls identified three SNPs in MAP2K1 significantly associated with gastric cancer risk: rs4287513 (OR=1.30, P=1.92×10⁻³), rs76906202 (OR=0.87, P=3.72×10⁻³, protective), and rs11631448 (OR=1.21, P=6.74×10⁻³). eQTL analysis confirmed these variants regulate MAP2K1 expression, and low MAP2K1 expression was associated with poor survival in gastric cancer patients.

Traits studied:Gastric adenocarcinomaGastric cancer
PubMedDOIMetascience Observatory

About RAF1

This gene is the cellular homolog of viral raf gene (v-raf). The encoded protein is a MAP kinase kinase kinase (MAP3K), which functions downstream of the Ras family of membrane associated GTPases to which it binds directly. Once activated, the cellular RAF1 protein can phosphorylate to activate the dual specificity protein kinases MEK1 and MEK2, which in turn phosphorylate to activate the serine/threonine specific protein kinases, ERK1 and ERK2. Activated ERKs are pleiotropic effectors of cell physiology and play an important role in the control of gene expression involved in the cell division cycle, apoptosis, cell differentiation and cell migration. Mutations in this gene are associated with Noonan syndrome 5 and LEOPARD syndrome 2. [provided by RefSeq, Jul 2008]

View all RAF1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…