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rs104893706

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893706(A;A)
Make rs104893706(A;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position122284482
GeneCASR
is asnp
is mentioned by
dbSNPrs104893706
ebirs104893706
HLIrs104893706
Exacrs104893706
Varsomers104893706
Maprs104893706
PheGenIrs104893706
hapmaprs104893706
1000 genomesrs104893706
hgdprs104893706
ensemblrs104893706
gopubmedrs104893706
geneviewrs104893706
scholarrs104893706
googlers104893706
pharmgkbrs104893706
gwascentralrs104893706
openSNPrs104893706
23andMers104893706
23andMe allrs104893706
SNP Nexus

SNPshotrs104893706
SNPdbers104893706
MSV3drs104893706
GWAS Ctlgrs104893706
Max Magnitude0
OMIM601199
Desc
Variant0034
Relatedalso
ClinVar
Risk rs104893706(A;A)
Alt rs104893706(A;A)
Reference rs104893706(C;C)
Significance Pathogenic
Disease Hypocalcemia
Variation info
Gene CASR
CLNDBN Hypocalcemia, autosomal dominant 1, with bartter syndrome Hypocalcemia, autosomal dominant 1
Reversed 0
HGVS NC_000003.11:g.122003329C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008847.5, RCV000054480.3,