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rs104893691

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893691(A;A)
Make rs104893691(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position122257241
GeneCASR
is asnp
is mentioned by
dbSNPrs104893691
ebirs104893691
HLIrs104893691
Exacrs104893691
Varsomers104893691
Maprs104893691
PheGenIrs104893691
hapmaprs104893691
1000 genomesrs104893691
hgdprs104893691
ensemblrs104893691
gopubmedrs104893691
geneviewrs104893691
scholarrs104893691
googlers104893691
pharmgkbrs104893691
gwascentralrs104893691
openSNPrs104893691
23andMers104893691
23andMe allrs104893691
SNP Nexus

SNPshotrs104893691
SNPdbers104893691
MSV3drs104893691
GWAS Ctlgrs104893691
Max Magnitude0
OMIM601199
Desc
Variant0010
Relatedalso
ClinVar
Risk rs104893691(A;A)
Alt rs104893691(A;A)
Reference rs104893691(G;G)
Significance Pathogenic
Disease Hypocalcemia
Variation info
Gene CASR
CLNDBN Hypocalcemia, autosomal dominant 1
Reversed 0
HGVS NC_000003.11:g.121976088G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008822.6,