Rs1801726
From SNPedia
| is a | snp |
| is | mentioned by |
| dbSNP | rs1801726 |
| hapmap | rs1801726 |
| hgdp | rs1801726 |
| ensembl | rs1801726 |
| gopubmed | rs1801726 |
| scholar | rs1801726 |
| rs1801726 | |
| pharmgkb | rs1801726 |
| hgvbaseg2p | rs1801726 |
| medrefsnp | rs1801726 |
| 23andMe | rs1801726 |
| SNP Nexus |
| Gene | CASR |
| Chromosome | 3 |
| Orientation | plus |
| Position | 123486521 |
| Genotype | Effect |
|---|---|
| rs1801726(C;C)* | ? |
| rs1801726(C;G)* | ? |
| rs1801726(G;G)* | ? |
| Venter snp | |
|---|---|
| Source | plos |
| Gene | CASR |
| allele | C |
| frequency | 0.967 |
| sift | TOLERATED |
| HuRef | 1103656212645 |
| 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. |
| ? | (C;C) (C;G) (G;G) |
|---|---|
|
| |
| Neighbor | rs1042636 |
| Distance | 63 |
