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rs193922425

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922425(A;A)
Make rs193922425(A;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position122282180
GeneCASR
is asnp
is mentioned by
dbSNPrs193922425
dbSNP (classic)rs193922425
ClinGenrs193922425
ebirs193922425
HLIrs193922425
Exacrs193922425
Gnomadrs193922425
Varsomers193922425
LitVarrs193922425
Maprs193922425
PheGenIrs193922425
Biobankrs193922425
1000 genomesrs193922425
hgdprs193922425
ensemblrs193922425
geneviewrs193922425
scholarrs193922425
googlers193922425
pharmgkbrs193922425
gwascentralrs193922425
openSNPrs193922425
23andMers193922425
SNPshotrs193922425
SNPdbers193922425
MSV3drs193922425
GWAS Ctlgrs193922425
Max Magnitude0
ClinVar
Risk rs193922425(A;A) rs193922425(T;T)
Alt rs193922425(A;A) rs193922425(T;T)
Reference Rs193922425(C;C)
Significance Probable-Pathogenic
Disease Familial hypocalciuric hypercalcemia
Variation info
Gene CASR
CLNDBN Familial hypocalciuric hypercalcemia
Reversed 0
HGVS NC_000003.11:g.122001027C>A
CLNSRC ClinVar LabCorp
CLNACC RCV000029432.1,