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rs104893693

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104893693(C;C)
Make rs104893693(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position122284371
GeneCASR
is asnp
is mentioned by
dbSNPrs104893693
ebirs104893693
HLIrs104893693
Exacrs104893693
Varsomers104893693
Maprs104893693
PheGenIrs104893693
hapmaprs104893693
1000 genomesrs104893693
hgdprs104893693
ensemblrs104893693
gopubmedrs104893693
geneviewrs104893693
scholarrs104893693
googlers104893693
pharmgkbrs104893693
gwascentralrs104893693
openSNPrs104893693
23andMers104893693
23andMe allrs104893693
SNP Nexus

SNPshotrs104893693
SNPdbers104893693
MSV3drs104893693
GWAS Ctlgrs104893693
Max Magnitude0
OMIM601199
Desc
Variant0011
Relatedalso
ClinVar
Risk rs104893693(A,C;A,C)
Alt rs104893693(A,C;A,C)
Reference rs104893693(T;T)
Significance Pathogenic
Disease Hypocalcemia
Variation info
Gene CASR
CLNDBN Hypocalcemia, autosomal dominant 1
Reversed 0
HGVS NC_000003.11:g.122003218T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008823.4,