{{Rsnum
|rsid=1042636
|Gene=CASR
|Chromosome=3
|position=122284922
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.2071
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Summary=good
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=CASR
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 85.0 | 15.0 | 0.0
| HCB | 26.3 | 46.7 | 27.0
| JPT | 22.1 | 48.7 | 29.2
| YRI | 92.5 | 6.8 | 0.7
| ASW | 91.2 | 8.8 | 0.0
| CHB | 26.3 | 46.7 | 27.0
| CHD | 26.6 | 45.9 | 27.5
| GIH | 53.5 | 39.6 | 6.9
| LWK | 98.2 | 1.8 | 0.0
| MEX | 51.7 | 39.7 | 8.6
| MKK | 96.2 | 3.8 | 0.0
| TSI | 88.2 | 11.8 | 0.0
| HapMapRevision=28
}}

{{Venter SNP
|rsid=1042636
|allele=G
|frequency=0.067
|uid=1103656212640
|type=heterozygous_SNP
|hugo=CASR
|ensembl gene=ENSG00000036828
|ensembl transcript=ENST00000360387
|sift=
|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 = 1801725
| distance = 12
}}
{{ neighbor
| rsid = 1801726
| distance = 63
}}

{{PharmGKB
|RSID=rs1042636
|Name_s=CASR: R990G
|Gene_s=CASR
|Feature=
|Evidence=PubMed ID:18680227
|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.
|Drugs=
|Drug Classes=
|Diseases=Pancreatic Diseases
|Curation Level=Curated
|PharmGKB Accession ID=PA162190479
}}

{{PMID Auto
|PMID=22144504
|Title=Polymorphic variation in the GC and CASR genes and associations with vitamin D metabolite concentration and metachronous colorectal neoplasia
|OA=1
}}

{{PMID Auto
|PMID=22166946
|Title=Antilipolytic effect of calcimimetics depends on the allelic variant of calcium-sensing receptor gene polymorphism rs1042636 (Arg990Gly)
|OA=1
}}

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

{{PMID Auto
|PMID=20661308
|Title=Genome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR) gene.
|OA=1
}}

{{PMID Auto
|PMID=21461394
|Title=Cinacalcet treatment of primary hyperparathyroidism.
|OA=1
}}

{{GET Evidence
|gene=CASR
|aa_change=Arg1000Gly
|aa_change_short=R1000G
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1042636
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=6
|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
}}

{{PMID Auto
|PMID=24903972
|Title=Genetic predisposition to calcific aortic stenosis and mitral annular calcification
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}