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rs193922429

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922429(-;-)
Make rs193922429(-;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position122283838
GeneCASR
is asnp
is mentioned by
dbSNPrs193922429
ebirs193922429
HLIrs193922429
Exacrs193922429
Varsomers193922429
Maprs193922429
PheGenIrs193922429
hapmaprs193922429
1000 genomesrs193922429
hgdprs193922429
ensemblrs193922429
gopubmedrs193922429
geneviewrs193922429
scholarrs193922429
googlers193922429
pharmgkbrs193922429
gwascentralrs193922429
openSNPrs193922429
23andMers193922429
23andMe allrs193922429
SNP Nexus

SNPshotrs193922429
SNPdbers193922429
MSV3drs193922429
GWAS Ctlgrs193922429
Max Magnitude0
ClinVar
Risk rs193922429(;)
Alt rs193922429(;)
Reference rs193922429(C;C)
Significance Probable-Pathogenic
Disease Familial hypocalciuric hypercalcemia
Variation info
Gene CASR
CLNDBN Familial hypocalciuric hypercalcemia
Reversed 0
HGVS NC_000003.11:g.122002685delC
CLNSRC ClinVar LabCorp
CLNACC RCV000029436.1,