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rs1801725

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1801725(G;T)
Make rs1801725(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position122284910
GeneCASR
is asnp
is mentioned by
dbSNPrs1801725
ebirs1801725
HLIrs1801725
Exacrs1801725
Varsomers1801725
Maprs1801725
PheGenIrs1801725
hapmaprs1801725
1000 genomesrs1801725
hgdprs1801725
ensemblrs1801725
gopubmedrs1801725
geneviewrs1801725
scholarrs1801725
googlers1801725
pharmgkbrs1801725
gwascentralrs1801725
openSNPrs1801725
23andMers1801725
23andMe allrs1801725
SNP Nexus

SNPshotrs1801725
SNPdbers1801725
MSV3drs1801725
GWAS Ctlgrs1801725
GMAF0.07622
Max Magnitude0
? (G;G) (G;T) (T;T) 28
OMIM601199
DescCALCIUM, SERUM LEVELS OF
Variant0040
Relatedalso
Neighborrs1042636
Distance12


[PMID 19706842] Vitamin D Receptor and Calcium Sensing Receptor Polymorphisms and the Risk of Colorectal Cancer in European Populations

GWAS snp
PMID [PMID 20661308OA-icon.png]
Trait
Title Genome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR)gene
Risk Allele T
P-val 6E-37
Odds Ratio 0 [0.0031-0.0042] increase in log(CASR, mmol/L)


ClinVar
Risk rs1801725(T;T)
Alt rs1801725(T;T)
Reference rs1801725(G;G)
Significance Other
Disease Serum calcium level not specified
Variation info
Gene CASR
CLNDBN Serum calcium level not specified
Reversed 0
HGVS NC_000003.11:g.122003757G>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000008854.2, RCV000152933.3,



[PMID 17309124OA-icon.png] Interaction between birthweight and polymorphism in the calcium-sensing receptor gene in determination of adult bone mass: the Hertfordshire cohort study.


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


[PMID 22278364OA-icon.png] Prediagnostic 25-hydroxyvitamin D, VDR and CASR polymorphisms, and survival in patients with colorectal cancer in western European ppulations.


[PMID 23072920OA-icon.png] Genetic markers of bone and joint health and physical capability in older adults: the HALCyon programme


GET Evidence
CASR-A996S
aa_change Ala996Ser
aa_change_short A996S
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 23546818OA-icon.png] Vitamin D and calcium-sensing receptor polymorphisms differentially associate with resting energy expenditure in peripubertal children.

GWAS snp
PMID [PMID 24068962OA-icon.png]
Trait Calcium levels
Title Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.
Risk Allele T
P-val 9E-86
Odds Ratio .07 [0.063-0.079] unit increase


[PMID 27510541] Serum calcium and incident type 2 diabetes: the Atherosclerosis Risk in Communities (ARIC) study.