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rs193922431

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922431(A;A)
Make rs193922431(A;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position122283968
GeneCASR
is asnp
is mentioned by
dbSNPrs193922431
ebirs193922431
HLIrs193922431
Exacrs193922431
Varsomers193922431
Maprs193922431
PheGenIrs193922431
hapmaprs193922431
1000 genomesrs193922431
hgdprs193922431
ensemblrs193922431
gopubmedrs193922431
geneviewrs193922431
scholarrs193922431
googlers193922431
pharmgkbrs193922431
gwascentralrs193922431
openSNPrs193922431
23andMers193922431
23andMe allrs193922431
SNP Nexus

SNPshotrs193922431
SNPdbers193922431
MSV3drs193922431
GWAS Ctlgrs193922431
Max Magnitude0
ClinVar
Risk rs193922431(A;A)
Alt rs193922431(A;A)
Reference rs193922431(C;C)
Significance Probable-Pathogenic
Disease Familial hypocalciuric hypercalcemia
Variation info
Gene CASR
CLNDBN Familial hypocalciuric hypercalcemia
Reversed 0
HGVS NC_000003.11:g.122002815C>A
CLNSRC ClinVar LabCorp
CLNACC RCV000029438.1,