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rs104893694

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893694(C;T)
Make rs104893694(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position122257347
GeneCASR
is asnp
is mentioned by
dbSNPrs104893694
ebirs104893694
HLIrs104893694
Exacrs104893694
Varsomers104893694
Maprs104893694
PheGenIrs104893694
hapmaprs104893694
1000 genomesrs104893694
hgdprs104893694
ensemblrs104893694
gopubmedrs104893694
geneviewrs104893694
scholarrs104893694
googlers104893694
pharmgkbrs104893694
gwascentralrs104893694
openSNPrs104893694
23andMers104893694
23andMe allrs104893694
SNP Nexus

SNPshotrs104893694
SNPdbers104893694
MSV3drs104893694
GWAS Ctlgrs104893694
Max Magnitude0
OMIM601199
Desc
Variant0012
Relatedalso
ClinVar
Risk rs104893694(T;T)
Alt rs104893694(T;T)
Reference rs104893694(C;C)
Significance Pathogenic
Disease Hypocalcemia
Variation info
Gene CASR
CLNDBN Hypocalcemia, autosomal dominant 1
Reversed 0
HGVS NC_000003.11:g.121976194C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008824.5,