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rs193922441

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs193922441(A;G)
Make rs193922441(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position122261531
GeneCASR
is asnp
is mentioned by
dbSNPrs193922441
ebirs193922441
HLIrs193922441
Exacrs193922441
Varsomers193922441
Maprs193922441
PheGenIrs193922441
hapmaprs193922441
1000 genomesrs193922441
hgdprs193922441
ensemblrs193922441
gopubmedrs193922441
geneviewrs193922441
scholarrs193922441
googlers193922441
pharmgkbrs193922441
gwascentralrs193922441
openSNPrs193922441
23andMers193922441
23andMe allrs193922441
SNP Nexus

SNPshotrs193922441
SNPdbers193922441
MSV3drs193922441
GWAS Ctlgrs193922441
Max Magnitude0
ClinVar
Risk rs193922441(G;G)
Alt rs193922441(G;G)
Reference rs193922441(A;A)
Significance Probable-Pathogenic
Disease Familial hypocalciuric hypercalcemia
Variation info
Gene CASR
CLNDBN Familial hypocalciuric hypercalcemia
Reversed 0
HGVS NC_000003.11:g.121980378A>G
CLNSRC ClinVar LabCorp
CLNACC RCV000029452.1,


[PMID 19179454] Calcium-sensing receptor mutations and denaturing high performance liquid chromatography.