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rs193922444

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922444(A;A)
Make rs193922444(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position122262009
GeneCASR
is asnp
is mentioned by
dbSNPrs193922444
dbSNP (classic)rs193922444
ClinGenrs193922444
ebirs193922444
HLIrs193922444
Exacrs193922444
Gnomadrs193922444
Varsomers193922444
LitVarrs193922444
Maprs193922444
PheGenIrs193922444
Biobankrs193922444
1000 genomesrs193922444
hgdprs193922444
ensemblrs193922444
geneviewrs193922444
scholarrs193922444
googlers193922444
pharmgkbrs193922444
gwascentralrs193922444
openSNPrs193922444
23andMers193922444
SNPshotrs193922444
SNPdbers193922444
MSV3drs193922444
GWAS Ctlgrs193922444
Max Magnitude0
ClinVar
Risk rs193922444(A;A) rs193922444(C;C)
Alt rs193922444(A;A) rs193922444(C;C)
Reference Rs193922444(G;G)
Significance Probable-Pathogenic
Disease Familial hypocalciuric hypercalcemia
Variation info
Gene CASR
CLNDBN Familial hypocalciuric hypercalcemia
Reversed 0
HGVS NC_000003.11:g.121980856G>A
CLNSRC ClinVar LabCorp
CLNACC RCV000029455.1,