SNP Detail For rs28489187
1.Mapping Information
Human SNP ID rs28489187
Human chromosome chr1
Human SNP position 85331427
Pig chromosome chr4
Pig SNP position 143197611
2.Annotation Information
PubMed ID24159190
JournalEur Heart J
Linkwww.ncbi.nlm.nih.gov/pubmed/24159190
StudyGenome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.
Disease/TraitSerum dimethylarginine levels (asymmetric/symetric ratio)
Initial sample5110 European ancestry individuals
Replication sampleNA
Region1p22.3
Chromosome idchr1
Chromosome position85331427
Reported geneDDAH1
Mapped geneDDAH1
Upstream gene id
Downstream gene id
SNP gene ids23576
Upstream gene distance
Downstream gene distance
SNP risk allelers28489187-G
SNPsrs28489187
Merged0
SNP id current28489187
Contextintron_variant
Intergenic0
Allele frequency0.216
P value1E-20
Pvalue mlog20
P value text
Or beta0.259
%95 Ci[0.20-0.31] unit increase
PlatformAffymetrix, Illumina [10085758] (imputed)
CNVN
Mapped traitserum dimethylarginine measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005418
Study accessionGCST002242
PubMed ID24159190
JournalEur Heart J
Linkwww.ncbi.nlm.nih.gov/pubmed/24159190
StudyGenome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.
Disease/TraitAsymmetrical dimethylarginine levels
Initial sample5110 European ancestry individuals
Replication sampleNA
Region1p22.3
Chromosome idchr1
Chromosome position85331427
Reported geneDDAH1
Mapped geneDDAH1
Upstream gene id
Downstream gene id
SNP gene ids23576
Upstream gene distance
Downstream gene distance
SNP risk allelers28489187-G
SNPsrs28489187
Merged0
SNP id current28489187
Contextintron_variant
Intergenic0
Allele frequency0.216
P value1E-40
Pvalue mlog40
P value text
Or beta0.37
%95 Ci[0.32-0.42] unit increase
PlatformAffymetrix, Illumina [10085758] (imputed)
CNVN
Mapped traitasymmetrical dimethylarginine measurement, serum dimethylarginine measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0006522, http://www.ebi.ac.uk/efo/EFO_0005418
Study accessionGCST002241