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rs193922430

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922430(A;A)
Make rs193922430(A;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position122283888
GeneCASR
is asnp
is mentioned by
dbSNPrs193922430
ebirs193922430
HLIrs193922430
Exacrs193922430
Varsomers193922430
Maprs193922430
PheGenIrs193922430
hapmaprs193922430
1000 genomesrs193922430
hgdprs193922430
ensemblrs193922430
gopubmedrs193922430
geneviewrs193922430
scholarrs193922430
googlers193922430
pharmgkbrs193922430
gwascentralrs193922430
openSNPrs193922430
23andMers193922430
23andMe allrs193922430
SNP Nexus

SNPshotrs193922430
SNPdbers193922430
MSV3drs193922430
GWAS Ctlgrs193922430
Max Magnitude0
ClinVar
Risk rs193922430(A;A)
Alt rs193922430(A;A)
Reference rs193922430(C;C)
Significance Probable-Pathogenic
Disease Hypoparathyroidism familial isolated
Variation info
Gene CASR
CLNDBN Hypoparathyroidism familial isolated
Reversed 0
HGVS NC_000003.11:g.122002735C>A
CLNSRC ClinVar LabCorp
CLNACC RCV000029437.1,