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rs104893711

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104893711(C;C)
Make rs104893711(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position122284316
GeneCASR
is asnp
is mentioned by
dbSNPrs104893711
ebirs104893711
HLIrs104893711
Exacrs104893711
Varsomers104893711
Maprs104893711
PheGenIrs104893711
hapmaprs104893711
1000 genomesrs104893711
hgdprs104893711
ensemblrs104893711
gopubmedrs104893711
geneviewrs104893711
scholarrs104893711
googlers104893711
pharmgkbrs104893711
gwascentralrs104893711
openSNPrs104893711
23andMers104893711
23andMe allrs104893711
SNP Nexus

SNPshotrs104893711
SNPdbers104893711
MSV3drs104893711
GWAS Ctlgrs104893711
Max Magnitude0
OMIM601199
Desc
Variant0039
Relatedalso
ClinVar
Risk rs104893711(C;C)
Alt rs104893711(C;C)
Reference rs104893711(T;T)
Significance Pathogenic
Disease Hypocalcemia
Variation info
Gene CASR
CLNDBN Hypocalcemia, autosomal dominant 1
Reversed 0
HGVS NC_000003.11:g.122003163T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008853.5,