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rs193922439

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs193922439(A;C)
Make rs193922439(C;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position122257164
GeneCASR
is asnp
is mentioned by
dbSNPrs193922439
ebirs193922439
HLIrs193922439
Exacrs193922439
Varsomers193922439
Maprs193922439
PheGenIrs193922439
hapmaprs193922439
1000 genomesrs193922439
hgdprs193922439
ensemblrs193922439
gopubmedrs193922439
geneviewrs193922439
scholarrs193922439
googlers193922439
pharmgkbrs193922439
gwascentralrs193922439
openSNPrs193922439
23andMers193922439
23andMe allrs193922439
SNP Nexus

SNPshotrs193922439
SNPdbers193922439
MSV3drs193922439
GWAS Ctlgrs193922439
Max Magnitude0
ClinVar
Risk rs193922439(C;C)
Alt rs193922439(C;C)
Reference rs193922439(A;A)
Significance Probable-Pathogenic
Disease Familial hypocalciuric hypercalcemia
Variation info
Gene CASR
CLNDBN Familial hypocalciuric hypercalcemia
Reversed 0
HGVS NC_000003.11:g.121976011A>C
CLNSRC ClinVar LabCorp
CLNACC RCV000029447.1,