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rs104893697

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893697(A;A)
Make rs104893697(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position122261606
GeneCASR
is asnp
is mentioned by
dbSNPrs104893697
dbSNP (classic)rs104893697
ClinGenrs104893697
ebirs104893697
HLIrs104893697
Exacrs104893697
Gnomadrs104893697
Varsomers104893697
LitVarrs104893697
Maprs104893697
PheGenIrs104893697
Biobankrs104893697
1000 genomesrs104893697
hgdprs104893697
ensemblrs104893697
geneviewrs104893697
scholarrs104893697
googlers104893697
pharmgkbrs104893697
gwascentralrs104893697
openSNPrs104893697
23andMers104893697
SNPshotrs104893697
SNPdbers104893697
MSV3drs104893697
GWAS Ctlgrs104893697
Max Magnitude0
OMIM601199
Desc
Variant0016
Relatedalso
ClinVar
Risk rs104893697(A;A)
Alt rs104893697(A;A)
Reference Rs104893697(G;G)
Significance Pathogenic
Disease Hypocalcemia
Variation info
Gene CASR
CLNDBN Hypocalcemia, autosomal dominant 1
Reversed 0
HGVS NC_000003.11:g.121980453G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008828.4,