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rs397514729

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514729(A;G)
Make rs397514729(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position122254274
GeneCASR
is asnp
is mentioned by
dbSNPrs397514729
ebirs397514729
HLIrs397514729
Exacrs397514729
Varsomers397514729
Maprs397514729
PheGenIrs397514729
hapmaprs397514729
1000 genomesrs397514729
hgdprs397514729
ensemblrs397514729
gopubmedrs397514729
geneviewrs397514729
scholarrs397514729
googlers397514729
pharmgkbrs397514729
gwascentralrs397514729
openSNPrs397514729
23andMers397514729
23andMe allrs397514729
SNP Nexus

SNPshotrs397514729
SNPdbers397514729
MSV3drs397514729
GWAS Ctlgrs397514729
Max Magnitude0
ClinVar
Risk rs397514729(G;G)
Alt rs397514729(G;G)
Reference rs397514729(A;A)
Significance Pathogenic
Disease Hypocalcemia
Variation info
Gene CASR
CLNDBN Hypocalcemia, autosomal dominant 1, with bartter syndrome
Reversed 0
HGVS NC_000003.11:g.121973121A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000054483.3,