SNP Detail For rs1801725
1.Mapping Information
Human SNP ID rs1801725
Human chromosome chr3
Human SNP position 122284910
Pig chromosome chr13
Pig SNP position 147908211
2.Annotation Information
PubMed ID20661308
JournalPLoS Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/20661308
StudyGenome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR) gene.
Disease/TraitCalcium levels
Initial sample8,918 European ancestry individuals, 3,947 Indian Asian ancestry individuals
Replication sample4,126 European ancestry individuals
Region3q21.1
Chromosome idchr3
Chromosome position122284910
Reported geneCASR
Mapped geneCASR
Upstream gene id
Downstream gene id
SNP gene ids846
Upstream gene distance
Downstream gene distance
SNP risk allelers1801725-T
SNPsrs1801725
Merged0
SNP id current1801725
Contextmissense_variant
Intergenic0
Allele frequency0.1775
P value6E-37
Pvalue mlog36.2218487496163
P value text
Or beta0
%95 Ci[0.0031-0.0042] log(CASR, mmol/L) increase
PlatformAffymetrix, Illumina, Perlegen [2557252] (imputed)
CNVN
Mapped traitcalcium measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004838
Study accessionGCST000736
PubMed ID24068962
JournalPLoS Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/24068962
StudyMeta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.
Disease/TraitCalcium levels
Initial sample39,400 European ancestry individuals
Replication sampleUp to 21,679 European ancestry individuals
Region3q21.1
Chromosome idchr3
Chromosome position122284910
Reported geneCASR
Mapped geneCASR
Upstream gene id
Downstream gene id
SNP gene ids846
Upstream gene distance
Downstream gene distance
SNP risk allelers1801725-T
SNPsrs1801725
Merged0
SNP id current1801725
Contextmissense_variant
Intergenic0
Allele frequency0.15
P value9E-86
Pvalue mlog85.0457574905606
P value text
Or beta0.071
%95 Ci[0.063-0.079] unit increase
PlatformAffymetrix, Illumina [2500000] (imputed)
CNVN
Mapped traitcalcium measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004838
Study accessionGCST002201
PubMed ID25886283
JournalPLoS One
Linkwww.ncbi.nlm.nih.gov/pubmed/25886283
StudyGenome-wide association study of serum minerals levels in children of different ethnic background.
Disease/TraitCalcium levels
Initial sample5,261 European ancestry children, 3,817 African-American ancestry children
Replication sample
Region3q21.1
Chromosome idchr3
Chromosome position122284910
Reported geneCASR
Mapped geneCASR
Upstream gene id
Downstream gene id
SNP gene ids846
Upstream gene distance
Downstream gene distance
SNP risk allelers1801725-T
SNPsrs1801725
Merged0
SNP id current1801725
Contextmissense_variant
Intergenic0
Allele frequencyNR
P value0.000002
Pvalue mlog5.69897000433601
P value text
Or beta0.0566
%95 Ci[NR] mg/dl increase
PlatformIllumina [up to 507950]
CNVN
Mapped traitcalcium measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004838
Study accessionGCST002857