Human SNP ID | rs1801725 |
---|---|
Human chromosome | chr3 |
Human SNP position | 122284910 |
Pig chromosome | chr13 |
Pig SNP position | 147908211 |
PubMed ID | 20661308 |
---|---|
Journal | PLoS Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/20661308 |
Study | Genome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR) gene. |
Disease/Trait | Calcium levels |
Initial sample | 8,918 European ancestry individuals, 3,947 Indian Asian ancestry individuals |
Replication sample | 4,126 European ancestry individuals |
Region | 3q21.1 |
Chromosome id | chr3 |
Chromosome position | 122284910 |
Reported gene | CASR |
Mapped gene | CASR |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 846 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs1801725-T |
SNPs | rs1801725 |
Merged | 0 |
SNP id current | 1801725 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.1775 |
P value | 6E-37 |
Pvalue mlog | 36.2218487496163 |
P value text | |
Or beta | 0 |
%95 Ci | [0.0031-0.0042] log(CASR, mmol/L) increase |
Platform | Affymetrix, Illumina, Perlegen [2557252] (imputed) |
CNV | N |
Mapped trait | calcium measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004838 |
Study accession | GCST000736 |
PubMed ID | 24068962 |
Journal | PLoS Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/24068962 |
Study | Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations. |
Disease/Trait | Calcium levels |
Initial sample | 39,400 European ancestry individuals |
Replication sample | Up to 21,679 European ancestry individuals |
Region | 3q21.1 |
Chromosome id | chr3 |
Chromosome position | 122284910 |
Reported gene | CASR |
Mapped gene | CASR |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 846 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs1801725-T |
SNPs | rs1801725 |
Merged | 0 |
SNP id current | 1801725 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.15 |
P value | 9E-86 |
Pvalue mlog | 85.0457574905606 |
P value text | |
Or beta | 0.071 |
%95 Ci | [0.063-0.079] unit increase |
Platform | Affymetrix, Illumina [2500000] (imputed) |
CNV | N |
Mapped trait | calcium measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004838 |
Study accession | GCST002201 |
PubMed ID | 25886283 |
Journal | PLoS One |
Link | www.ncbi.nlm.nih.gov/pubmed/25886283 |
Study | Genome-wide association study of serum minerals levels in children of different ethnic background. |
Disease/Trait | Calcium levels |
Initial sample | 5,261 European ancestry children, 3,817 African-American ancestry children |
Replication sample | |
Region | 3q21.1 |
Chromosome id | chr3 |
Chromosome position | 122284910 |
Reported gene | CASR |
Mapped gene | CASR |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 846 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs1801725-T |
SNPs | rs1801725 |
Merged | 0 |
SNP id current | 1801725 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | NR |
P value | 0.000002 |
Pvalue mlog | 5.69897000433601 |
P value text | |
Or beta | 0.0566 |
%95 Ci | [NR] mg/dl increase |
Platform | Illumina [up to 507950] |
CNV | N |
Mapped trait | calcium measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004838 |
Study accession | GCST002857 |