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rs121909266

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909266(C;T)
Make rs121909266(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position122257091
GeneCASR
is asnp
is mentioned by
dbSNPrs121909266
dbSNP (classic)rs121909266
ClinGenrs121909266
ebirs121909266
HLIrs121909266
Exacrs121909266
Gnomadrs121909266
Varsomers121909266
LitVarrs121909266
Maprs121909266
PheGenIrs121909266
Biobankrs121909266
1000 genomesrs121909266
hgdprs121909266
ensemblrs121909266
geneviewrs121909266
scholarrs121909266
googlers121909266
pharmgkbrs121909266
gwascentralrs121909266
openSNPrs121909266
23andMers121909266
SNPshotrs121909266
SNPdbers121909266
MSV3drs121909266
GWAS Ctlgrs121909266
Max Magnitude0
OMIM601199
Desc
Variant0026
Relatedalso
ClinVar
Risk rs121909266(T;T)
Alt rs121909266(T;T)
Reference Rs121909266(C;C)
Significance Pathogenic
Disease Hypocalciuric hypercalcemia
Variation info
Gene CASR
CLNDBN Hypocalciuric hypercalcemia, familial, type 1
Reversed 0
HGVS NC_000003.11:g.121975938C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008837.6,