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rs1042636

From SNPedia

good
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs1042636(A;G)
Make rs1042636(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position122284922
GeneCASR
is asnp
is mentioned by
dbSNPrs1042636
ebirs1042636
HLIrs1042636
Exacrs1042636
Varsomers1042636
Maprs1042636
PheGenIrs1042636
hapmaprs1042636
1000 genomesrs1042636
hgdprs1042636
ensemblrs1042636
gopubmedrs1042636
geneviewrs1042636
scholarrs1042636
googlers1042636
pharmgkbrs1042636
gwascentralrs1042636
openSNPrs1042636
23andMers1042636
23andMe allrs1042636
SNP Nexus

SNPshotrs1042636
SNPdbers1042636
MSV3drs1042636
GWAS Ctlgrs1042636
GMAF0.2071
Max Magnitude0
? (A;A) (A;G) (G;G) 28


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.



Neighborrs1801725
Distance12
Neighborrs1801726
Distance63
[PMID 22144504OA-icon.png] Polymorphic variation in the GC and CASR genes and associations with vitamin D metabolite concentration and metachronous colorectal neoplasia


[PMID 22166946OA-icon.png] Antilipolytic effect of calcimimetics depends on the allelic variant of calcium-sensing receptor gene polymorphism rs1042636 (Arg990Gly)


[PMID 18843020OA-icon.png] Genetic variation in calcium-sensing receptor and risk for colon cancer.


[PMID 20661308OA-icon.png] Genome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR) gene.


[PMID 21461394OA-icon.png] Cinacalcet treatment of primary hyperparathyroidism.


GET Evidence
CASR-R1000G
aa_change Arg1000Gly
aa_change_short R1000G
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency
summary



[PMID 23533647OA-icon.png] Polymorphisms in the calcium-sensing receptor gene are associated with clinical outcome of neuroblastoma


[PMID 23125333OA-icon.png] 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
Variation info
Gene CASR
CLNDBN not specified
Reversed 0
HGVS NC_000003.11:g.122003769A>G
CLNSRC
CLNACC RCV000179296.1,