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rs104893699

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104893699(G;G)
Make rs104893699(G;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position122284272
GeneCASR
is asnp
is mentioned by
dbSNPrs104893699
ebirs104893699
HLIrs104893699
Exacrs104893699
Varsomers104893699
Maprs104893699
PheGenIrs104893699
hapmaprs104893699
1000 genomesrs104893699
hgdprs104893699
ensemblrs104893699
gopubmedrs104893699
geneviewrs104893699
scholarrs104893699
googlers104893699
pharmgkbrs104893699
gwascentralrs104893699
openSNPrs104893699
23andMers104893699
23andMe allrs104893699
SNP Nexus

SNPshotrs104893699
SNPdbers104893699
MSV3drs104893699
GWAS Ctlgrs104893699
Max Magnitude0
OMIM601199
Desc
Variant0019
Relatedalso
ClinVar
Risk rs104893699(G;G)
Alt rs104893699(G;G)
Reference rs104893699(T;T)
Significance Pathogenic
Disease Hypocalcemia
Variation info
Gene CASR
CLNDBN Hypocalcemia, autosomal dominant 1
Reversed 0
HGVS NC_000003.11:g.122003119T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008830.4,