rs1800973

This variant is located in the LYZ gene.

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GWAS Catalog Trait Associations (11)

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

monocyte percentage of leukocytes

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 2.0e-154

N 394,642

Large GWAS

European

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)

Allele A

OR 0.12

p 7.0e-139

N 408,112

Large GWAS

European

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)

Allele A

OR 0.11

p 4.0e-46

N 170,494

Large GWAS

European

lysozyme C 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 0.67

p 1.0e-142

N 10,708

Large GWAS

European

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)

Allele A

OR 0.75

p 2.0e-54

N 3,301

Large GWAS

European

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 A

OR 0.92

p 8.0e-13

N 2,935

Large GWAS

Greater Middle Eastern (Middle Eastern, North African or Persian)

Suhre K et al. “Connecting genetic risk to disease end points through the human blood plasma proteome.” Nature Communications 8:14357 (2017)

Allele A

OR 0.95

p 2.0e-29

N 997

Small GWAS

multi-ancestry

lymphocyte:monocyte ratio

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 C

OR —

p 9.0e-63

N 234,184

Large GWAS

European

Oral ulcer

Dudding T et al. “Genome wide analysis for mouth ulcers identifies associations at immune regulatory loci.” Nature Communications 10(1):1052 (2019)

Allele A

OR 1.11

p 1.0e-32

N 461,106

Large GWAS

European, NR

granulocyte percentage of myeloid white cells

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)

Allele A

OR 0.09

p 1.0e-31

N 169,545

Large GWAS

European

leukocyte quantity

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)

Allele A

OR 0.04

p 6.0e-15

N 408,112

Large GWAS

European

C-reactive protein measurement

Said S et al. “Genetic analysis of over half a million people characterises C-reactive protein loci.” Nature Communications 13(1):2198 (2022)

Allele A

OR 0.03

p 6.0e-12

N 575,531

Large GWAS

European

Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)

Allele A

OR 0.03

p 3.0e-10

N 575,531

Large GWAS

European

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele A

OR 0.03

p 9.0e-10

N 436,491

Large GWAS

multi-ancestry

Han X et al. “Using Mendelian randomization to evaluate the causal relationship between serum C-reactive protein levels and age-related macular degeneration.” European Journal of Epidemiology 35(2):139-146 (2020)

Allele A

OR 0.03

p 1.0e-11

N 418,642

Large GWAS

European

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 2.0e-10

N 355,127

Major Consortium StudyLarge GWAS

multi-ancestry

blood protein amount

Orrù V et al. “Complex genetic signatures in immune cells underlie autoimmunity and inform therapy.” Nature Genetics 52(10):1036-1045 (2020)

Allele A

OR 0.31

p 1.0e-11

N 3,629

Large GWAS

European

monocyte 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 3.0e-184

N 639,696

Large GWAS

multi-ancestry

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele A

OR 0.12

p 3.0e-133

N 444,975

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 0.13

p 9.0e-169

N 408,112

Large GWAS

European

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 0.11

p 8.0e-173

N 394,642

Large GWAS

European

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 A

OR 0.11

p 5.0e-67

N 259,608

Major Consortium StudyLarge GWAS

European

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 A

OR —

p 6.0e-67

N 234,690

Large GWAS

European

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)

Allele A

OR 0.11

p 1.0e-53

N 170,721

Large GWAS

European

Orrù V et al. “Complex genetic signatures in immune cells underlie autoimmunity and inform therapy.” Nature Genetics 52(10):1036-1045 (2020)

Allele A

OR 0.31

p 7.0e-12

N 3,629

Large GWAS

European

monocyte measurement

Akbari P et al. “A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.” Nature Communications 14(1):5023 (2023)

Allele A

OR 0.13

p 5.0e-18

N 39,460

Large GWAS

European

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ClinVar annotation

Likely Benign★★★☆

5 submitters2 publications

Familial visceral amyloidosis, Ostertag type; not provided; not specified

View on ClinVar →

About LYZ

This gene encodes human lysozyme, whose natural substrate is the bacterial cell wall peptidoglycan (cleaving the beta[1-4]glycosidic linkages between N-acetylmuramic acid and N-acetylglucosamine). Lysozyme is one of the antimicrobial agents found in human milk, and is also present in spleen, lung, kidney, white blood cells, plasma, saliva, and tears. The protein has antibacterial activity against a number of bacterial species. Missense mutations in this gene have been identified in heritable renal amyloidosis. [provided by RefSeq, Oct 2014]

rs1800973

GWAS Catalog Trait Associations (11)

monocyte percentage of leukocytes

lysozyme C measurement

lymphocyte:monocyte ratio

Oral ulcer

granulocyte percentage of myeloid white cells

leukocyte quantity

C-reactive protein measurement

blood protein amount

monocyte count

monocyte measurement

ClinVar annotation

About LYZ

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