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rs104893712

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893712(A;A)
Make rs104893712(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position122283764
GeneCASR
is asnp
is mentioned by
dbSNPrs104893712
ebirs104893712
HLIrs104893712
Exacrs104893712
Varsomers104893712
Maprs104893712
PheGenIrs104893712
hapmaprs104893712
1000 genomesrs104893712
hgdprs104893712
ensemblrs104893712
gopubmedrs104893712
geneviewrs104893712
scholarrs104893712
googlers104893712
pharmgkbrs104893712
gwascentralrs104893712
openSNPrs104893712
23andMers104893712
23andMe allrs104893712
SNP Nexus

SNPshotrs104893712
SNPdbers104893712
MSV3drs104893712
GWAS Ctlgrs104893712
Max Magnitude0
OMIM601199
Desc
Variant0041
Relatedalso
ClinVar
Risk rs104893712(A;A)
Alt rs104893712(A;A)
Reference rs104893712(G;G)
Significance Pathogenic
Disease Hypocalcemia
Variation info
Gene CASR
CLNDBN Hypocalcemia, autosomal dominant 1
Reversed 0
HGVS NC_000003.11:g.122002611G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008855.4,