rs1126605
This is a variant in the C1R gene that changes a glutamate to an lysine.
▶GWAS Catalog Trait Associations (14)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (14)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
tyrosine-protein phosphatase non-receptor type 4 measurement
Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.73
p 1.0e-209
N 10,708
Large GWAS
European
blood protein amount
Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)
Allele T
OR 0.69
p 4.0e-129
N 5,344
Large GWAS
European
level of protocadherin-12 in blood serum
Surapaneni A et al. “Identification of 969 protein quantitative trait loci in an African American population with kidney disease attributed to hypertension.” Kidney International 102(5):1167-1177 (2022)
Allele T
OR 1.43
p 2.0e-98
N 466
Small GWAS
African American or Afro-Caribbean
microfibrillar-associated protein 2 measurement
Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.36
p 6.0e-52
N 10,708
Large GWAS
European
dynactin subunit 2 measurement
Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.33
p 7.0e-46
N 10,708
Large GWAS
European
clusterin measurement
Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.29
p 2.0e-36
N 10,708
Large GWAS
European
level of catenin alpha-3 in blood serum
Kuliesius J et al. “Efficient candidate drug target discovery through proteogenomics in a Scottish cohort.” Communications Biology 8(1):1300 (2025)
Allele T
OR 1.66
p 5.0e-26
N 191
Small GWAS
European
f-box/LRR-repeat protein 4 measurement
Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.23
p 2.0e-22
N 10,708
Large GWAS
European
complement C1r subcomponent measurement
Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.23
p 2.0e-20
N 10,708
Large GWAS
European
prolyl 4-hydroxylase subunit alpha-2 measurement
Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.21
p 4.0e-18
N 10,708
Large GWAS
European
▶ClinVar annotation
About C1R
This gene encodes a member of the peptidase S1 protein family. The encoded protein is a proteolytic subunit in the complement system C1 complex. The complement system acts as a mediator in the innate immune response by ultimately triggering phagocytosis, inflammation, and rupturing the bacterial cell wall. Mutations in this gene are associated with Ehlers-Danlos Syndrome. [provided by RefSeq, Dec 2018]
View all C1R variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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