rs1049481

This variant is located in the CALR gene.

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GWAS Catalog Trait Associations (3)

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

type 2 diabetes mellitus

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 G
OR 0.04
p 7.0e-20
N 432,648
Major Consortium StudyLarge GWAS
European

diabetes mellitus

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 G
OR 0.04
p 2.0e-19
N 431,305
Major Consortium StudyLarge GWAS
European

serum creatinine amount

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 G
OR 0.02
p 1.0e-14
N 420,576
Major Consortium StudyLarge GWAS
European
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ClinVar annotation

Benign★★★☆
2 submitters1 publication
View on ClinVar →
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Research that mentions this SNP (1)

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Genetic variants in the metzincin metallopeptidase family genes predict melanoma survival
AssociationN=1,267Yinghui Xu et al.(2018)· Molecular Carcinogenesis

A two-stage association study of 1,267 melanoma patients identified 4 independent SNPs in metzincin metallopeptidase family genes predicting melanoma-specific survival: rs10090371 in MMP16 (HR=1.73, P=9.68E-05), rs788935 in ADAMTS3 (HR=1.46, P=0.002), rs10882807 in TLL2 (HR=1.68, P=3.32E-05), and rs3918251 in MMP9 (HR=0.67, P=0.003). Combined genetic variants improved survival prediction when added to clinical variables.

Traits studied:Cutaneous melanomaMelanoma-specific survival
PubMedDOIMetascience Observatory

About CALR

Calreticulin is a highly conserved chaperone protein which resides primarily in the endoplasmic reticulum, and is involved in a variety of cellular processes, among them, cell adhesion. Additionally, it functions in protein folding quality control and calcium homeostasis. Calreticulin is also found in the nucleus, suggesting that it may have a role in transcription regulation. Systemic lupus erythematosus is associated with increased autoantibody titers against calreticulin. Recurrent mutations in calreticulin have been linked to various neoplasms, including the myeloproliferative type.[provided by RefSeq, May 2020]

View all CALR variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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