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rs193922433

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922433(A;A)
Make rs193922433(A;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position122284197
GeneCASR
is asnp
is mentioned by
dbSNPrs193922433
ebirs193922433
HLIrs193922433
Exacrs193922433
Varsomers193922433
Maprs193922433
PheGenIrs193922433
hapmaprs193922433
1000 genomesrs193922433
hgdprs193922433
ensemblrs193922433
gopubmedrs193922433
geneviewrs193922433
scholarrs193922433
googlers193922433
pharmgkbrs193922433
gwascentralrs193922433
openSNPrs193922433
23andMers193922433
23andMe allrs193922433
SNP Nexus

SNPshotrs193922433
SNPdbers193922433
MSV3drs193922433
GWAS Ctlgrs193922433
Max Magnitude0
ClinVar
Risk rs193922433(A;A)
Alt rs193922433(A;A)
Reference rs193922433(C;C)
Significance Probable-Pathogenic
Disease Familial hypocalciuric hypercalcemia
Variation info
Gene CASR
CLNDBN Familial hypocalciuric hypercalcemia
Reversed 0
HGVS NC_000003.11:g.122003044C>A
CLNSRC ClinVar LabCorp
CLNACC RCV000029440.1,