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rs104893708

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104893708(C;C)
Make rs104893708(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position122257269
GeneCASR
is asnp
is mentioned by
dbSNPrs104893708
ebirs104893708
HLIrs104893708
Exacrs104893708
Varsomers104893708
Maprs104893708
PheGenIrs104893708
hapmaprs104893708
1000 genomesrs104893708
hgdprs104893708
ensemblrs104893708
gopubmedrs104893708
geneviewrs104893708
scholarrs104893708
googlers104893708
pharmgkbrs104893708
gwascentralrs104893708
openSNPrs104893708
23andMers104893708
23andMe allrs104893708
SNP Nexus

SNPshotrs104893708
SNPdbers104893708
MSV3drs104893708
GWAS Ctlgrs104893708
Max Magnitude0
OMIM601199
Desc
Variant0037
Relatedalso
ClinVar
Risk rs104893708(C;C)
Alt rs104893708(C;C)
Reference rs104893708(T;T)
Significance Pathogenic
Disease Hypocalcemia
Variation info
Gene CASR
CLNDBN Hypocalcemia, autosomal dominant 1 Hypocalcemia, autosomal dominant 1, with bartter syndrome
Reversed 0
HGVS NC_000003.11:g.121976116T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008851.4, RCV000190877.2,