rs2271708

This variant is located in the C7 gene.

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GWAS Catalog Trait Associations (10)

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

complement component C7 measurement

Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)
Allele C
OR 1.32
p 7.0e-27
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)

apolipoprotein D measurement

Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)
Allele C
OR 1.16
p 1.0e-20
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)

thrombospondin-2 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.31
p 5.0e-20
N 47,745
Large GWAS
European

kallikrein-14 measurement

Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)
Allele C
OR 1.14
p 6.0e-20
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)

CD97 antigen measurement

Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)
Allele C
OR 1.05
p 4.0e-17
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)

calcineurin subunit B type 1 measurement

Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)
Allele C
OR 1.01
p 6.0e-16
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)

tyrosine-protein kinase ZAP-70 measurement

Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)
Allele C
OR 0.95
p 2.0e-14
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)

tumor necrosis factor receptor superfamily member 3 amount

Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)
Allele C
OR 0.89
p 8.0e-13
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)

tumor necrosis factor receptor superfamily member 11B amount

Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)
Allele C
OR 0.89
p 1.0e-12
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)

DNA repair protein RAD51 homolog 1 amount

Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)
Allele C
OR 0.87
p 3.0e-12
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)
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ClinVar annotation

Benign★★★☆
2 submitters2 publications
View on ClinVar →

About C7

This gene encodes a serum glycoprotein that forms a membrane attack complex together with complement components C5b, C6, C8, and C9 as part of the terminal complement pathway of the innate immune system. The protein encoded by this gene contains a cholesterol-dependent cytolysin/membrane attack complex/perforin-like (CDC/MACPF) domain and belongs to a large family of structurally related molecules that form pores involved in host immunity and bacterial pathogenesis. This protein initiates membrane attack complex formation by binding the C5b-C6 subcomplex and inserts into the phospholipid bilayer, serving as a membrane anchor. Mutations in this gene are associated with a rare disorder called C7 deficiency. [provided by RefSeq, Nov 2016]

View all C7 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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