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rs397514728

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514728(C;T)
Make rs397514728(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position122261697
GeneCASR
is asnp
is mentioned by
dbSNPrs397514728
ebirs397514728
HLIrs397514728
Exacrs397514728
Varsomers397514728
Maprs397514728
PheGenIrs397514728
hapmaprs397514728
1000 genomesrs397514728
hgdprs397514728
ensemblrs397514728
gopubmedrs397514728
geneviewrs397514728
scholarrs397514728
googlers397514728
pharmgkbrs397514728
gwascentralrs397514728
openSNPrs397514728
23andMers397514728
23andMe allrs397514728
SNP Nexus

SNPshotrs397514728
SNPdbers397514728
MSV3drs397514728
GWAS Ctlgrs397514728
Max Magnitude0
ClinVar
Risk rs397514728(A,T;A,T)
Alt rs397514728(A,T;A,T)
Reference rs397514728(C;C)
Significance Pathogenic
Disease Hypocalciuric hypercalcemia Hypocalcemia
Variation info
Gene CASR
CLNDBN Hypocalciuric hypercalcemia, familial, type 1 Hypocalcemia, autosomal dominant 1
Reversed 0
HGVS NC_000003.11:g.121980544C>A; NC_000003.11:g.121980544C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000054482.2, RCV000054481.3,