{{Rsnum
|rsid=1801726
|Gene=CASR
|Chromosome=3
|position=122284985
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=G
|GMAF=0.07668
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=CASR
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 90.8 | 9.2 | 0.0
| HCB | 97.8 | 2.2 | 0.0
| JPT | 95.5 | 4.5 | 0.0
| YRI | 57.1 | 36.5 | 6.3
| ASW | 0.0 | 0.0 | 0.0
| CHB | 97.8 | 2.2 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}

{{Venter SNP
|rsid=1801726
|allele=C
|frequency=0.967
|uid=1103656212645
|type=homozygous_SNP
|hugo=CASR
|ensembl gene=ENSG00000036828
|ensembl transcript=ENST00000360387
|sift=TOLERATED
|disease=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.
}}

{{ neighbor
| rsid = 1042636
| distance = 63
}}

{{PMID Auto
|PMID=20558521
|Title=Genetic variation in the retinoid X receptor and calcium-sensing receptor, and risk of colorectal cancer in the Colon Cancer Family Registry
|OA=1
}}

{{PMID Auto
|PMID=18787887
|Title=Genetic variation in candidate osteoporosis genes, bone mineral density, and fracture risk: the study of osteoporotic fractures.
|OA=1
}}

{{PMID Auto
|PMID=18843020
|Title=Genetic variation in calcium-sensing receptor and risk for colon cancer.
|OA=1
}}

{{GET Evidence
|gene=CASR
|aa_change=Glu1021Gln
|aa_change_short=E1021Q
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1801726
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=2
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=-2
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=23533647
|Title=Polymorphisms in the calcium-sensing receptor gene are associated with clinical outcome of neuroblastoma
|OA=1
}}

{{PMID Auto
|PMID=23125333
|Title=Common genetic variation of the calcium-sensing receptor and lethal prostate cancer risk.
|OA=1
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}