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rs121909258

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909258(C;T)
Make rs121909258(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position122284337
GeneCASR
is asnp
is mentioned by
dbSNPrs121909258
ebirs121909258
HLIrs121909258
Exacrs121909258
Varsomers121909258
Maprs121909258
PheGenIrs121909258
hapmaprs121909258
1000 genomesrs121909258
hgdprs121909258
ensemblrs121909258
gopubmedrs121909258
geneviewrs121909258
scholarrs121909258
googlers121909258
pharmgkbrs121909258
gwascentralrs121909258
openSNPrs121909258
23andMers121909258
23andMe allrs121909258
SNP Nexus

SNPshotrs121909258
SNPdbers121909258
MSV3drs121909258
GWAS Ctlgrs121909258
Max Magnitude0
OMIM601199
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121909258(T;T)
Alt rs121909258(T;T)
Reference rs121909258(C;C)
Significance Pathogenic
Disease Hypocalciuric hypercalcemia
Variation info
Gene CASR
CLNDBN Hypocalciuric hypercalcemia, familial, type 1
Reversed 0
HGVS NC_000003.11:g.122003184C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008810.3,