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rs121909264

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909264(A;A)
Make rs121909264(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position122257323
GeneCASR
is asnp
is mentioned by
dbSNPrs121909264
ebirs121909264
HLIrs121909264
Exacrs121909264
Varsomers121909264
Maprs121909264
PheGenIrs121909264
hapmaprs121909264
1000 genomesrs121909264
hgdprs121909264
ensemblrs121909264
gopubmedrs121909264
geneviewrs121909264
scholarrs121909264
googlers121909264
pharmgkbrs121909264
gwascentralrs121909264
openSNPrs121909264
23andMers121909264
23andMe allrs121909264
SNP Nexus

SNPshotrs121909264
SNPdbers121909264
MSV3drs121909264
GWAS Ctlgrs121909264
Max Magnitude0
OMIM601199
Desc
Variant0024
Relatedalso
ClinVar
Risk rs121909264(A;A)
Alt rs121909264(A;A)
Reference rs121909264(G;G)
Significance Pathogenic
Disease Hypocalciuric hypercalcemia
Variation info
Gene CASR
CLNDBN Hypocalciuric hypercalcemia, familial, type 1
Reversed 0
HGVS NC_000003.11:g.121976170G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008835.5,