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rs121909268

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909268(G;G)
Make rs121909268(G;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position122261574
GeneCASR
is asnp
is mentioned by
dbSNPrs121909268
ebirs121909268
HLIrs121909268
Exacrs121909268
Varsomers121909268
Maprs121909268
PheGenIrs121909268
hapmaprs121909268
1000 genomesrs121909268
hgdprs121909268
ensemblrs121909268
gopubmedrs121909268
geneviewrs121909268
scholarrs121909268
googlers121909268
pharmgkbrs121909268
gwascentralrs121909268
openSNPrs121909268
23andMers121909268
23andMe allrs121909268
SNP Nexus

SNPshotrs121909268
SNPdbers121909268
MSV3drs121909268
GWAS Ctlgrs121909268
Max Magnitude0
OMIM601199
Desc
Variant0046
Relatedalso
ClinVar
Risk rs121909268(G;G)
Alt rs121909268(G;G)
Reference rs121909268(T;T)
Significance Pathogenic
Disease Hypocalciuric hypercalcemia
Variation info
Gene CASR
CLNDBN Hypocalciuric hypercalcemia, familial, type 1
Reversed 0
HGVS NC_000003.11:g.121980421T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008860.4,