rs1042636
| good |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs1042636(A;G) |
| Make rs1042636(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 122284922 |
| Gene | CASR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1042636 |
| dbSNP (classic) | rs1042636 |
| ClinGen | rs1042636 |
| ebi | rs1042636 |
| HLI | rs1042636 |
| Exac | rs1042636 |
| Gnomad | rs1042636 |
| Varsome | rs1042636 |
| LitVar | rs1042636 |
| Map | rs1042636 |
| PheGenI | rs1042636 |
| Biobank | rs1042636 |
| 1000 genomes | rs1042636 |
| hgdp | rs1042636 |
| ensembl | rs1042636 |
| geneview | rs1042636 |
| scholar | rs1042636 |
| rs1042636 | |
| pharmgkb | rs1042636 |
| gwascentral | rs1042636 |
| openSNP | rs1042636 |
| 23andMe | rs1042636 |
| SNPshot | rs1042636 |
| SNPdbe | rs1042636 |
| MSV3d | rs1042636 |
| GWAS Ctlg | rs1042636 |
| GMAF | 0.2071 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 22144504
] Polymorphic variation in the GC and CASR genes and associations with vitamin D metabolite concentration and metachronous colorectal neoplasia
[PMID 22166946] Antilipolytic effect of calcimimetics depends on the allelic variant of calcium-sensing receptor gene polymorphism rs1042636 (Arg990Gly)
[PMID 18843020] Genetic variation in calcium-sensing receptor and risk for colon cancer.
[PMID 20661308] Genome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR) gene.
[PMID 21461394] Cinacalcet treatment of primary hyperparathyroidism.
[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 24903972] Genetic predisposition to calcific aortic stenosis and mitral annular calcification
| ClinVar | |
|---|---|
| Risk | rs1042636(G;G) |
| Alt | rs1042636(G;G) |
| Reference | Rs1042636(A;A) |
| Significance | Non-pathogenic |
| Disease | not specified Hypocalcemia Neonatal severe hyperparathyroidism Familial hypocalciuric hypercalcemia Hypoparathyroidism familial isolated |
| Variation | info |
| Gene | CASR |
| CLNDBN | not specified Hypocalcemia Neonatal severe hyperparathyroidism Familial hypocalciuric hypercalcemia Hypoparathyroidism familial isolated |
| Reversed | 0 |
| HGVS | NC_000003.11:g.122003769A>G |
| CLNSRC | |
| CLNACC | RCV000179296.2, RCV000276967.1, RCV000312165.1, RCV000369225.1, RCV000394192.1, |
[PMID 29682741] Calcium-sensing receptor gene polymorphism (rs7652589) is associated with calcium nephrolithiasis in the population of Yi nationality in Southwestern China.
