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rs794729230

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs794729230(A;C)
Make rs794729230(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position122284436
GeneCASR
is asnp
is mentioned by
dbSNPrs794729230
ebirs794729230
HLIrs794729230
Exacrs794729230
Varsomers794729230
Maprs794729230
PheGenIrs794729230
hapmaprs794729230
1000 genomesrs794729230
hgdprs794729230
ensemblrs794729230
gopubmedrs794729230
geneviewrs794729230
scholarrs794729230
googlers794729230
pharmgkbrs794729230
gwascentralrs794729230
openSNPrs794729230
23andMers794729230
23andMe allrs794729230
SNP Nexus

SNPshotrs794729230
SNPdbers794729230
MSV3drs794729230
GWAS Ctlgrs794729230
Max Magnitude0
ClinVar
Risk rs794729230(C;C)
Alt rs794729230(C;C)
Reference rs794729230(A;A)
Significance Probable-Pathogenic
Disease Hypocalcemia
Variation info
Gene CASR
CLNDBN Hypocalcemia, autosomal dominant 1
Reversed 0
HGVS NC_000003.11:g.122003283A>C
CLNSRC
CLNACC RCV000184051.1,