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rs193922434

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922434(C;T)
Make rs193922434(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position122284208
GeneCASR
is asnp
is mentioned by
dbSNPrs193922434
ebirs193922434
HLIrs193922434
Exacrs193922434
Varsomers193922434
Maprs193922434
PheGenIrs193922434
hapmaprs193922434
1000 genomesrs193922434
hgdprs193922434
ensemblrs193922434
gopubmedrs193922434
geneviewrs193922434
scholarrs193922434
googlers193922434
pharmgkbrs193922434
gwascentralrs193922434
openSNPrs193922434
23andMers193922434
23andMe allrs193922434
SNP Nexus

SNPshotrs193922434
SNPdbers193922434
MSV3drs193922434
GWAS Ctlgrs193922434
Max Magnitude0
ClinVar
Risk rs193922434(T;T)
Alt rs193922434(T;T)
Reference rs193922434(C;C)
Significance Probable-Pathogenic
Disease Familial hypocalciuric hypercalcemia
Variation info
Gene CASR
CLNDBN Familial hypocalciuric hypercalcemia
Reversed 0
HGVS NC_000003.11:g.122003055C>T
CLNSRC ClinVar LabCorp
CLNACC RCV000029442.1,