rs41341748

This is a stop gained variant in the MSR1 gene.

▶

GWAS Catalog Trait Associations (17)

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

galectin-3-binding protein measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 1.74
p 9.0e-172
N 10,708
Large GWAS
European

macrophage scavenger receptor types I and II level

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 1.38
p 4.0e-119
N 10,708
Large GWAS
European
Png G et al. “Mapping the serum proteome to neurological diseases using whole genome sequencing.” Nature Communications 12(1):7042 (2021)
Allele A
OR 1.34
p 3.0e-38
N 2,893
Large GWAS
European

level of integrin beta-like protein 1 in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.29
p 3.0e-32
N 47,745
Large GWAS
European

pentraxin-related protein PTX3 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.31
p 3.0e-32
N 47,745
Large GWAS
European

level of stromelysin-1 in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.21
p 6.0e-31
N 47,745
Large GWAS
European

IGF-1 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.10
p 1.0e-30
N 394,642
Large GWAS
European

ficolin-1 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.28
p 5.0e-30
N 47,745
Large GWAS
European

blood protein amount

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.24
p 9.0e-23
N 47,745
Large GWAS
European

integrin alpha-5 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.24
p 6.0e-21
N 47,745
Large GWAS
European

fibronectin measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.23
p 3.0e-17
N 47,745
Large GWAS
European
▶

ClinVar annotation

Pathogenic★☆☆☆
10 submitters7 publications

Barrett esophagus; Hereditary cancer-predisposing syndrome; MSR1-related disorder; Malignant tumor of prostate; X-linked Alport syndrome (ATS1)

View on ClinVar →
▶

Research that mentions this SNP (1)

▶
Disease variants in genomes of 44 centenarians
Case reportN=44Yun Freudenberg‐Hua et al.(2014)· Molecular Genetics &amp; Genomic Medicine

Whole genome sequencing of 44 Ashkenazi Jewish centenarians identified 216 coding variants annotated as pathogenic or likely pathogenic in ClinVar. The study found 130 rare variants (MAF <5%) reported to cause degenerative, neoplastic, and cardiac diseases with various inheritance patterns. Notably, several carriers had no clinical manifestations despite carrying variants linked to serious diseases (e.g., an APOE ε4 homozygote without Alzheimer's disease, a UBQLN2 P525S carrier without ALS). These findings suggest incomplete penetrance and reduced clinical significance for many reported disease mutations.

Traits studied:Aging and longevityAlzheimer's diseaseAmyotrophic lateral sclerosisBecker muscular dystrophyBrugada syndromeCancer/NeoplasmCardiac arrhythmiaCardiomyopathyDeafnessDementia with Lewy bodiesDiabetesDuchenne muscular dystrophyEhlers-Danlos syndromeGaucher diseaseGlaucomaHypercholesterolemiaIchthyosisKeratoconusLong QT syndromeObesityParkinson's diseasePremature ovarian failureRetinitis pigmentosa
PubMedDOIMetascience Observatory

About MSR1

This gene encodes the class A macrophage scavenger receptors, which include three different types (1, 2, 3) generated by alternative splicing of this gene. These receptors or isoforms are macrophage-specific trimeric integral membrane glycoproteins and have been implicated in many macrophage-associated physiological and pathological processes including atherosclerosis, Alzheimer's disease, and host defense. The isoforms type 1 and type 2 are functional receptors and are able to mediate the endocytosis of modified low density lipoproteins (LDLs). The isoform type 3 does not internalize modified LDL (acetyl-LDL) despite having the domain shown to mediate this function in the types 1 and 2 isoforms. It has an altered intracellular processing and is trapped within the endoplasmic reticulum, making it unable to perform endocytosis. The isoform type 3 can inhibit the function of isoforms type 1 and type 2 when co-expressed, indicating a dominant negative effect and suggesting a mechanism for regulation of scavenger receptor activity in macrophages. [provided by RefSeq, Jul 2008]

View all MSR1 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…