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rs1801726

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1801726(C;C)
Make rs1801726(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position122284985
GeneCASR
is asnp
is mentioned by
dbSNPrs1801726
ebirs1801726
HLIrs1801726
Exacrs1801726
Varsomers1801726
Maprs1801726
PheGenIrs1801726
hapmaprs1801726
1000 genomesrs1801726
hgdprs1801726
ensemblrs1801726
gopubmedrs1801726
geneviewrs1801726
scholarrs1801726
googlers1801726
pharmgkbrs1801726
gwascentralrs1801726
openSNPrs1801726
23andMers1801726
23andMe allrs1801726
SNP Nexus

SNPshotrs1801726
SNPdbers1801726
MSV3drs1801726
GWAS Ctlgrs1801726
GMAF0.07668
Max Magnitude0
? (C;C) (C;G) (G;G) 28


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.



Neighborrs1042636
Distance63
[PMID 20558521OA-icon.png] Genetic variation in the retinoid X receptor and calcium-sensing receptor, and risk of colorectal cancer in the Colon Cancer Family Registry


[PMID 18787887OA-icon.png] Genetic variation in candidate osteoporosis genes, bone mineral density, and fracture risk: the study of osteoporotic fractures.


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


GET Evidence
CASR-E1021Q
aa_change Glu1021Gln
aa_change_short E1021Q
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.


ClinVar
Risk rs1801726(C;C)
Alt rs1801726(C;C)
Reference rs1801726(G;G)
Significance Non-pathogenic
Disease Hypocalcemia Hypocalciuric hypercalcemia not specified
Variation info
Gene CASR
CLNDBN Hypocalcemia, autosomal dominant 1 Hypocalciuric hypercalcemia, familial, type 1 not specified
Reversed 0
HGVS NC_000003.11:g.122003832G\x3d; NC_000003.11:g.122003832G>C
CLNSRC
CLNACC RCV000229426.1, RCV000152934.3,