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rs193922435

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193922435(C;C)
Make rs193922435(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position122284389
GeneCASR
is asnp
is mentioned by
dbSNPrs193922435
ebirs193922435
HLIrs193922435
Exacrs193922435
Varsomers193922435
Maprs193922435
PheGenIrs193922435
hapmaprs193922435
1000 genomesrs193922435
hgdprs193922435
ensemblrs193922435
gopubmedrs193922435
geneviewrs193922435
scholarrs193922435
googlers193922435
pharmgkbrs193922435
gwascentralrs193922435
openSNPrs193922435
23andMers193922435
23andMe allrs193922435
SNP Nexus

SNPshotrs193922435
SNPdbers193922435
MSV3drs193922435
GWAS Ctlgrs193922435
Max Magnitude0
ClinVar
Risk rs193922435(C;C)
Alt rs193922435(C;C)
Reference rs193922435(T;T)
Significance Probable-Pathogenic
Disease Familial hypocalciuric hypercalcemia
Variation info
Gene CASR
CLNDBN Familial hypocalciuric hypercalcemia
Reversed 0
HGVS NC_000003.11:g.122003236T>C
CLNSRC ClinVar LabCorp
CLNACC RCV000029443.1,