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rs193922423

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922423(A;A)
Make rs193922423(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position122275959
GeneCASR
is asnp
is mentioned by
dbSNPrs193922423
ebirs193922423
HLIrs193922423
Exacrs193922423
Varsomers193922423
Maprs193922423
PheGenIrs193922423
hapmaprs193922423
1000 genomesrs193922423
hgdprs193922423
ensemblrs193922423
gopubmedrs193922423
geneviewrs193922423
scholarrs193922423
googlers193922423
pharmgkbrs193922423
gwascentralrs193922423
openSNPrs193922423
23andMers193922423
23andMe allrs193922423
SNP Nexus

SNPshotrs193922423
SNPdbers193922423
MSV3drs193922423
GWAS Ctlgrs193922423
Max Magnitude0
ClinVar
Risk rs193922423(A;A)
Alt rs193922423(A;A)
Reference rs193922423(G;G)
Significance Pathogenic
Disease Familial hypocalciuric hypercalcemia
Variation info
Gene CASR
CLNDBN Familial hypocalciuric hypercalcemia
Reversed 0
HGVS NC_000003.11:g.121994806G>A
CLNSRC ClinVar LabCorp
CLNACC RCV000029430.1,


[PMID 17698911] Molecular genetic analysis of the calcium sensing receptor gene in patients clinically suspected to have familial hypocalciuric hypercalcemia: phenotypic variation and mutation spectrum in a Danish population.


[PMID 18410554] Discriminative power of three indices of renal calcium excretion for the distinction between familial hypocalciuric hypercalcaemia and primary hyperparathyroidism: a follow-up study on methods.