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rs193922427

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GC;GC) 0 common in clinvar
Make rs193922427(CT;CT)
Make rs193922427(CT;GC)
ReferenceGRCh38 38.1/141
Chromosome3
Position122282189
GeneCASR
is asnp
is mentioned by
dbSNPrs193922427
ebirs193922427
HLIrs193922427
Exacrs193922427
Varsomers193922427
Maprs193922427
PheGenIrs193922427
hapmaprs193922427
1000 genomesrs193922427
hgdprs193922427
ensemblrs193922427
gopubmedrs193922427
geneviewrs193922427
scholarrs193922427
googlers193922427
pharmgkbrs193922427
gwascentralrs193922427
openSNPrs193922427
23andMers193922427
23andMe allrs193922427
SNP Nexus

SNPshotrs193922427
SNPdbers193922427
MSV3drs193922427
GWAS Ctlgrs193922427
Max Magnitude0
ClinVar
Risk rs193922427(CT;CT)
Alt rs193922427(CT;CT)
Reference rs193922427(GC;GC)
Significance Probable-Pathogenic
Disease Familial hypocalciuric hypercalcemia
Variation info
Gene CASR
CLNDBN Familial hypocalciuric hypercalcemia
Reversed 0
HGVS NC_000003.11:g.122001036_122001037delGCinsCT
CLNSRC ClinVar
CLNACC RCV000029434.1,