rs1801725
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs1801725(G;T) |
| Make rs1801725(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 122284910 |
| Gene | CASR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1801725 |
| dbSNP (classic) | rs1801725 |
| ClinGen | rs1801725 |
| ebi | rs1801725 |
| HLI | rs1801725 |
| Exac | rs1801725 |
| Gnomad | rs1801725 |
| Varsome | rs1801725 |
| LitVar | rs1801725 |
| Map | rs1801725 |
| PheGenI | rs1801725 |
| Biobank | rs1801725 |
| 1000 genomes | rs1801725 |
| hgdp | rs1801725 |
| ensembl | rs1801725 |
| geneview | rs1801725 |
| scholar | rs1801725 |
| rs1801725 | |
| pharmgkb | rs1801725 |
| gwascentral | rs1801725 |
| openSNP | rs1801725 |
| 23andMe | rs1801725 |
| SNPshot | rs1801725 |
| SNPdbe | rs1801725 |
| MSV3d | rs1801725 |
| GWAS Ctlg | rs1801725 |
| GMAF | 0.07622 |
| Max Magnitude | 0 |
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 19706842] Vitamin D Receptor and Calcium Sensing Receptor Polymorphisms and the Risk of Colorectal Cancer in European Populations
| GWAS snp | |
|---|---|
| PMID | [PMID 20661308 ]
|
| Trait | |
| Title | Genome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR)gene |
| Risk Allele | T |
| P-val | 6E-37 |
| Odds Ratio | 0 [0.0031-0.0042] increase in log(CASR, mmol/L) |
| ClinVar | |
|---|---|
| Risk | rs1801725(T;T) |
| Alt | rs1801725(T;T) |
| Reference | Rs1801725(G;G) |
| Significance | Other |
| Disease | Serum calcium level not specified Neonatal severe hyperparathyroidism Familial hypocalciuric hypercalcemia Hypocalcemia Hypoparathyroidism familial isolated |
| Variation | info |
| Gene | CASR |
| CLNDBN | Serum calcium level not specified Neonatal severe hyperparathyroidism Familial hypocalciuric hypercalcemia Hypocalcemia Hypoparathyroidism familial isolated |
| Reversed | 0 |
| HGVS | NC_000003.11:g.122003757G>T |
| CLNSRC | HGMD OMIM Allelic Variant |
| CLNACC | RCV000008854.3, RCV000152933.4, RCV000299158.1, RCV000343555.1, RCV000356249.1, RCV000405678.1, |
[PMID 17309124] Interaction between birthweight and polymorphism in the calcium-sensing receptor gene in determination of adult bone mass: the Hertfordshire cohort study.
[PMID 18843020] Genetic variation in calcium-sensing receptor and risk for colon cancer.
[PMID 22278364] Prediagnostic 25-hydroxyvitamin D, VDR and CASR polymorphisms, and survival in patients with colorectal cancer in western European ppulations.
[PMID 23072920] Genetic markers of bone and joint health and physical capability in older adults: the HALCyon programme
[PMID 23533647] Polymorphisms in the calcium-sensing receptor gene are associated with clinical outcome of neuroblastoma
[PMID 23125333] Common genetic variation of the calcium-sensing receptor and lethal prostate cancer risk.
[PMID 23546818] Vitamin D and calcium-sensing receptor polymorphisms differentially associate with resting energy expenditure in peripubertal children.
| GWAS snp | |
|---|---|
| PMID | [PMID 24068962]
|
| Trait | Calcium levels |
| Title | Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations. |
| Risk Allele | T |
| P-val | 9E-86 |
| Odds Ratio | .07 [0.063-0.079] unit increase |
[PMID 27510541] Serum calcium and incident type 2 diabetes: the Atherosclerosis Risk in Communities (ARIC) study.
[PMID 29682741] Calcium-sensing receptor gene polymorphism (rs7652589) is associated with calcium nephrolithiasis in the population of Yi nationality in Southwestern China.
[PMID 32648293] CASR rs1801725 polymorphism is associated with the risk and prognosis of colorectal cancer: A case-control study.
