rs2617170

This is a variant in the KLRC4 gene that changes a asparagine to an serine.

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GWAS Catalog Trait Associations (4)

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

aspartate aminotransferase measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele C
OR 0.02
p 4.0e-16
N 354,541
Major Consortium StudyLarge GWAS
multi-ancestry

aspartate aminotransferase to alanine aminotransferase ratio

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 T
OR 0.02
p 1.0e-15
N 561,706
Major Consortium StudyLarge GWAS
multi-ancestry

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 C
OR 0.02
p 1.0e-15
N 325,292
Major Consortium StudyLarge GWAS
multi-ancestry

Behcet's syndrome

Kirino Y et al. “Genome-wide association analysis identifies new susceptibility loci for Behçet's disease and epistasis between HLA-B*51 and ERAP1.” Nature Genetics 45(2):202-7 (2013)
Allele T
OR 1.28
p 1.0e-9
N 2,493
Large GWAS
multi-ancestry
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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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Association of NKG2D genetic polymorphism with susceptibility to chronic hepatitis B in a Han Chinese population
AssociationN=500Juan Ma et al.(2010)· Journal of Medical Virology

This case-control association study of 500 Han Chinese patients analyzed genetic polymorphisms in NK cell receptor genes for association with chronic hepatitis B susceptibility. The TT genotype of rs2617160 in the NKG2D gene was independently associated with increased risk of chronic hepatitis B (P=0.044, OR=1.49, 95% CI=1.01-2.19), appearing more frequently in chronically infected patients (37.9%) than those who spontaneously cleared HBV (29.3%). Haplotype analysis of four NK receptor genes (KLRD1, KLRK1, KLRC4, KLRC1) showed no significant associations.

Traits studied:Chronic hepatitis BHepatitis B virus infection susceptibility
PubMedDOIMetascience Observatory

About KLRC4

Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. This gene is a member of the NKG2 group of genes that are expressed primarily in natural killer (NK) cells. These family members encode transmembrane proteins that are characterized by a type II membrane orientation (have an extracellular C-terminus) and the presence of a C-type lectin domain. This family member is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed in NK cells. Read-through transcription exists between this gene and the downstream KLRK1 (killer cell lectin-like receptor subfamily K, member 1) family member. [provided by RefSeq, Dec 2010]

View all KLRC4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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