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rs104893710

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893710(C;T)
Make rs104893710(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position122284413
GeneCASR
is asnp
is mentioned by
dbSNPrs104893710
ebirs104893710
HLIrs104893710
Exacrs104893710
Varsomers104893710
Maprs104893710
PheGenIrs104893710
hapmaprs104893710
1000 genomesrs104893710
hgdprs104893710
ensemblrs104893710
gopubmedrs104893710
geneviewrs104893710
scholarrs104893710
googlers104893710
pharmgkbrs104893710
gwascentralrs104893710
openSNPrs104893710
23andMers104893710
23andMe allrs104893710
SNP Nexus

SNPshotrs104893710
SNPdbers104893710
MSV3drs104893710
GWAS Ctlgrs104893710
Max Magnitude0
OMIM601199
Desc
Variant0038
Relatedalso
ClinVar
Risk rs104893710(T;T)
Alt rs104893710(T;T)
Reference rs104893710(C;C)
Significance Pathogenic
Disease Hypocalcemia
Variation info
Gene CASR
CLNDBN Hypocalcemia, autosomal dominant 1
Reversed 0
HGVS NC_000003.11:g.122003260C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008852.4,