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rs104893698

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104893698(C;C)
Make rs104893698(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position122283789
GeneCASR
is asnp
is mentioned by
dbSNPrs104893698
dbSNP (classic)rs104893698
ClinGenrs104893698
ebirs104893698
HLIrs104893698
Exacrs104893698
Gnomadrs104893698
Varsomers104893698
LitVarrs104893698
Maprs104893698
PheGenIrs104893698
Biobankrs104893698
1000 genomesrs104893698
hgdprs104893698
ensemblrs104893698
geneviewrs104893698
scholarrs104893698
googlers104893698
pharmgkbrs104893698
gwascentralrs104893698
openSNPrs104893698
23andMers104893698
SNPshotrs104893698
SNPdbers104893698
MSV3drs104893698
GWAS Ctlgrs104893698
Max Magnitude0
OMIM601199
Desc
Variant0017
Relatedalso
ClinVar
Risk rs104893698(C;C)
Alt rs104893698(C;C)
Reference Rs104893698(T;T)
Significance Pathogenic
Disease Hypocalcemia
Variation info
Gene CASR
CLNDBN Hypocalcemia, autosomal dominant 1
Reversed 0
HGVS NC_000003.11:g.122002636T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008829.5,