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rs121909262

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909262(C;G)
Make rs121909262(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position122254304
GeneCASR
is asnp
is mentioned by
dbSNPrs121909262
dbSNP (classic)rs121909262
ClinGenrs121909262
ebirs121909262
HLIrs121909262
Exacrs121909262
Gnomadrs121909262
Varsomers121909262
LitVarrs121909262
Maprs121909262
PheGenIrs121909262
Biobankrs121909262
1000 genomesrs121909262
hgdprs121909262
ensemblrs121909262
geneviewrs121909262
scholarrs121909262
googlers121909262
pharmgkbrs121909262
gwascentralrs121909262
openSNPrs121909262
23andMers121909262
SNPshotrs121909262
SNPdbers121909262
MSV3drs121909262
GWAS Ctlgrs121909262
Max Magnitude0
OMIM601199
Desc
Variant0021
Relatedalso
ClinVar
Risk rs121909262(G;G) rs121909262(T;T)
Alt rs121909262(G;G) rs121909262(T;T)
Reference Rs121909262(C;C)
Significance Pathogenic
Disease Hypocalciuric hypercalcemia
Variation info
Gene CASR
CLNDBN Hypocalciuric hypercalcemia, familial, type 1
Reversed 0
HGVS NC_000003.11:g.121973151C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008832.4,