rs578222450
This is a protein-altering variant in the CARNS1 gene.
▶GWAS Catalog Trait Associations (17)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (17)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
X-21658 measurement
Hysi PG et al. “Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.” Metabolites 12(1) (2022)
Allele T
OR 0.42
p 1.0e-20
N 8,809
Large GWAS
European
X-24513 measurement
Hysi PG et al. “Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.” Metabolites 12(1) (2022)
Allele T
OR 0.38
p 3.0e-16
N 8,809
Large GWAS
European
2,3-dihydroxy-5-methylthio-4-pentenoate (DMTPA) measurement
Hysi PG et al. “Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.” Metabolites 12(1) (2022)
Allele T
OR 0.35
p 6.0e-15
N 8,809
Large GWAS
European
gamma-glutamylisoleucine measurement
Hysi PG et al. “Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.” Metabolites 12(1) (2022)
Allele T
OR 0.34
p 3.0e-14
N 8,809
Large GWAS
European
O-methylcatechol sulfate measurement
Hysi PG et al. “Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.” Metabolites 12(1) (2022)
Allele T
OR 0.35
p 1.0e-13
N 8,809
Large GWAS
European
1-ribosyl-imidazoleacetate measurement
Hysi PG et al. “Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.” Metabolites 12(1) (2022)
Allele T
OR 0.34
p 3.0e-13
N 8,809
Large GWAS
European
5-acetylamino-6-amino-3-methyluracil measurement
Hysi PG et al. “Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.” Metabolites 12(1) (2022)
Allele T
OR 0.34
p 1.0e-12
N 8,809
Large GWAS
European
arabitol measurement, xylitol measurement
Hysi PG et al. “Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.” Metabolites 12(1) (2022)
Allele T
OR 0.33
p 2.0e-12
N 8,809
Large GWAS
European
gamma-glutamylleucine measurement
Hysi PG et al. “Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.” Metabolites 12(1) (2022)
Allele T
OR 0.31
p 6.0e-12
N 8,809
Large GWAS
European
catechol sulfate measurement
Hysi PG et al. “Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.” Metabolites 12(1) (2022)
Allele T
OR 0.33
p 1.0e-11
N 8,809
Large GWAS
European
About CARNS1
CARNS1 (EC 6.3.2.11), a member of the ATP-grasp family of ATPases, catalyzes the formation of carnosine (beta-alanyl-L-histidine) and homocarnosine (gamma-aminobutyryl-L-histidine), which are found mainly in skeletal muscle and the central nervous system, respectively (Drozak et al., 2010 [PubMed 20097752]).[supplied by OMIM, Apr 2010]
View all CARNS1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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