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rs121909263

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909263(C;T)
Make rs121909263(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position122257308
GeneCASR
is asnp
is mentioned by
dbSNPrs121909263
dbSNP (classic)rs121909263
ClinGenrs121909263
ebirs121909263
HLIrs121909263
Exacrs121909263
Gnomadrs121909263
Varsomers121909263
LitVarrs121909263
Maprs121909263
PheGenIrs121909263
Biobankrs121909263
1000 genomesrs121909263
hgdprs121909263
ensemblrs121909263
geneviewrs121909263
scholarrs121909263
googlers121909263
pharmgkbrs121909263
gwascentralrs121909263
openSNPrs121909263
23andMers121909263
SNPshotrs121909263
SNPdbers121909263
MSV3drs121909263
GWAS Ctlgrs121909263
Max Magnitude0
OMIM601199
Desc
Variant0023
Relatedalso
ClinVar
Risk rs121909263(T;T)
Alt rs121909263(T;T)
Reference Rs121909263(C;C)
Significance Pathogenic
Disease Hypocalciuric hypercalcemia
Variation info
Gene CASR
CLNDBN Hypocalciuric hypercalcemia, familial, type 1
Reversed 0
HGVS NC_000003.11:g.121976155C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008834.6,