rs117556162

This variant is located in the CARMIL2 gene.

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GWAS Catalog Trait Associations (5)

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

level of serum globulin type protein

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 0.05
p 1.0e-19
N 325,292
Major Consortium StudyLarge GWAS
multi-ancestry

eosinophil count

Kachuri L et al. “Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia.” American Journal of Human Genetics 108(10):1823-1835 (2021)
Allele G
OR —
p 3.0e-11
N 234,763
Large GWAS
European

blood protein amount

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 0.03
p 5.0e-10
N 325,292
Major Consortium StudyLarge GWAS
multi-ancestry

disorder of pharynx

Saarentaus EC et al. “Inflammatory and infectious upper respiratory diseases associate with 41 genomic loci and type 2 inflammation.” Nature Communications 14(1):83 (2023)
Allele A
OR 0.88
p 3.0e-8
N 232,365
Large GWAS
European

lymphocyte 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 A
OR —
p 1.0e-26
N 643,370
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 A
OR 0.05
p 9.0e-24
N 408,112
Large GWAS
European
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ClinVar annotation

Benign★★★☆
4 submitters2 publications

not provided; CARMIL2-related disorder; not specified

View on ClinVar →

About CARMIL2

This gene encodes a member of the CARMIL (capping protein, Arp2/3, myosin-I linker) family of proteins. The encoded protein interacts with and negatively regulates the heterodimeric capping protein and promotes cell migration. Reduced expression of this gene has been observed in human psoriasis patients. Mutations in this gene cause a human immunodeficiency syndrome characterized by smooth muscle tumors and impaired T-cell function. [provided by RefSeq, May 2017]

View all CARMIL2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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