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rs104893696

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104893696(C;C)
Make rs104893696(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position122257277
GeneCASR
is asnp
is mentioned by
dbSNPrs104893696
ebirs104893696
HLIrs104893696
Exacrs104893696
Varsomers104893696
Maprs104893696
PheGenIrs104893696
hapmaprs104893696
1000 genomesrs104893696
hgdprs104893696
ensemblrs104893696
gopubmedrs104893696
geneviewrs104893696
scholarrs104893696
googlers104893696
pharmgkbrs104893696
gwascentralrs104893696
openSNPrs104893696
23andMers104893696
23andMe allrs104893696
SNP Nexus

SNPshotrs104893696
SNPdbers104893696
MSV3drs104893696
GWAS Ctlgrs104893696
Max Magnitude0
OMIM601199
Desc
Variant0014
Relatedalso
ClinVar
Risk rs104893696(C;C)
Alt rs104893696(C;C)
Reference rs104893696(T;T)
Significance Pathogenic
Disease Hypocalcemia
Variation info
Gene CASR
CLNDBN Hypocalcemia, autosomal dominant 1
Reversed 0
HGVS NC_000003.11:g.121976124T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008827.4,