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rs104893702

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104893702(A;C)
Make rs104893702(C;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position122254330
GeneCASR
is asnp
is mentioned by
dbSNPrs104893702
dbSNP (classic)rs104893702
ClinGenrs104893702
ebirs104893702
HLIrs104893702
Exacrs104893702
Gnomadrs104893702
Varsomers104893702
LitVarrs104893702
Maprs104893702
PheGenIrs104893702
Biobankrs104893702
1000 genomesrs104893702
hgdprs104893702
ensemblrs104893702
geneviewrs104893702
scholarrs104893702
googlers104893702
pharmgkbrs104893702
gwascentralrs104893702
openSNPrs104893702
23andMers104893702
SNPshotrs104893702
SNPdbers104893702
MSV3drs104893702
GWAS Ctlgrs104893702
Max Magnitude0
OMIM601199
Desc
Variant0028
Relatedalso
ClinVar
Risk rs104893702(C;C)
Alt rs104893702(C;C)
Reference Rs104893702(A;A)
Significance Pathogenic
Disease Hypocalcemia
Variation info
Gene CASR
CLNDBN Hypocalcemia, autosomal dominant 1
Reversed 0
HGVS NC_000003.11:g.121973177A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008839.5,