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rs121909260

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121909260(A;C)
Make rs121909260(C;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position122257275
GeneCASR
is asnp
is mentioned by
dbSNPrs121909260
ebirs121909260
HLIrs121909260
Exacrs121909260
Varsomers121909260
Maprs121909260
PheGenIrs121909260
hapmaprs121909260
1000 genomesrs121909260
hgdprs121909260
ensemblrs121909260
gopubmedrs121909260
geneviewrs121909260
scholarrs121909260
googlers121909260
pharmgkbrs121909260
gwascentralrs121909260
openSNPrs121909260
23andMers121909260
23andMe allrs121909260
SNP Nexus

SNPshotrs121909260
SNPdbers121909260
MSV3drs121909260
GWAS Ctlgrs121909260
Max Magnitude0
OMIM601199
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121909260(C,G;C,G)
Alt rs121909260(C,G;C,G)
Reference rs121909260(A;A)
Significance Pathogenic
Disease Hypocalcemia Familial hypocalciuric hypercalcemia
Variation info
Gene CASR
CLNDBN Hypocalcemia, autosomal dominant 1 Familial hypocalciuric hypercalcemia
Reversed 0
HGVS NC_000003.11:g.121976122A>C; NC_000003.11:g.121976122A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008815.5, RCV000029450.1,