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rs121909259

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909259(A;A)
Make rs121909259(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position122261924
GeneCASR
is asnp
is mentioned by
dbSNPrs121909259
ebirs121909259
HLIrs121909259
Exacrs121909259
Varsomers121909259
Maprs121909259
PheGenIrs121909259
hapmaprs121909259
1000 genomesrs121909259
hgdprs121909259
ensemblrs121909259
gopubmedrs121909259
geneviewrs121909259
scholarrs121909259
googlers121909259
pharmgkbrs121909259
gwascentralrs121909259
openSNPrs121909259
23andMers121909259
23andMe allrs121909259
SNP Nexus

SNPshotrs121909259
SNPdbers121909259
MSV3drs121909259
GWAS Ctlgrs121909259
Max Magnitude0
OMIM601199
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121909259(A;A)
Alt rs121909259(A;A)
Reference rs121909259(G;G)
Significance Pathogenic
Disease Hypocalciuric hypercalcemia Neonatal severe hyperparathyroidism
Variation info
Gene CASR
CLNDBN Hypocalciuric hypercalcemia, familial, type 1 Neonatal severe hyperparathyroidism
Reversed 0
HGVS NC_000003.11:g.121980771G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008811.4, RCV000008812.4,