Promethease 0.1.82
Rs1042636
From SNPedia
| is a | snp |
| is | mentioned by |
| dbSNP | rs1042636 |
| hapmap | rs1042636 |
| hgdp | rs1042636 |
| ensembl | rs1042636 |
| gopubmed | rs1042636 |
| scholar | rs1042636 |
| rs1042636 | |
| pharmgkb | rs1042636 |
| hgvbaseg2p | rs1042636 |
| medrefsnp | rs1042636 |
| 23andMe | rs1042636 |
| SNP Nexus |
| Gene | CASR |
| Chromosome | 3 |
| Orientation | plus |
| Position | 123486459 |
| Genotype | Effect |
|---|---|
| rs1042636(A;A) | |
| rs1042636(A;G)* | ? |
| rs1042636(G;G)* | ? |
| Genotypes | Magnitude | Summary |
|---|---|---|
| Rs1042636(A;A) | 00 |
| Venter snp | |
|---|---|
| Source | plos |
| Gene | CASR |
| allele | G |
| frequency | 0.067 |
| sift | |
| HuRef | 1103656212640 |
| Disease Association | Defects in CASR are the cause of autosomal dominant hypoparathyroidism (FIH) (MIM:146200). FIH is characterized by hypocalcemia and hyperphosphatemia due to inadequate secretion of parathyroid hormone. Symptoms are seizures, tetany and cramps. |
| ? | (A;A) (A;G) (G;G) |
|---|---|
|
| |
| Neighbor | rs1801725 |
| Distance | 12 |
| Neighbor | rs1801726 |
| Distance | 63 |
| PharmGKB | PA162190479 |
| Name | CASR: R990G |
| Annotation | One study at 115 subjects with pancreatitis and 66 controls found that the CASR R990G variant is a significant risk factor for chronic pancreatitis. |
| Gene | CASR |
| Featue | |
| Evidence | PubMed ID:18680227 |
| Drugs | |
| Diseases | Pancreatic Diseases |
| Curation Level | Curated |
