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rs104893718

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104893718(A;A)
Make rs104893718(A;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position122284134
GeneCASR
is asnp
is mentioned by
dbSNPrs104893718
ebirs104893718
HLIrs104893718
Exacrs104893718
Varsomers104893718
Maprs104893718
PheGenIrs104893718
hapmaprs104893718
1000 genomesrs104893718
hgdprs104893718
ensemblrs104893718
gopubmedrs104893718
geneviewrs104893718
scholarrs104893718
googlers104893718
pharmgkbrs104893718
gwascentralrs104893718
openSNPrs104893718
23andMers104893718
23andMe allrs104893718
SNP Nexus

SNPshotrs104893718
SNPdbers104893718
MSV3drs104893718
GWAS Ctlgrs104893718
Max Magnitude0
OMIM601199
Desc
Variant0045
Relatedalso
ClinVar
Risk rs104893718(A;A)
Alt rs104893718(A;A)
Reference rs104893718(T;T)
Significance Pathogenic
Disease Hypocalcemia
Variation info
Gene CASR
CLNDBN Hypocalcemia, autosomal dominant 1
Reversed 0
HGVS NC_000003.11:g.122002981T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008859.5,