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rs104893707

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893707(C;T)
Make rs104893707(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position122261588
GeneCASR
is asnp
is mentioned by
dbSNPrs104893707
ebirs104893707
HLIrs104893707
Exacrs104893707
Varsomers104893707
Maprs104893707
PheGenIrs104893707
hapmaprs104893707
1000 genomesrs104893707
hgdprs104893707
ensemblrs104893707
gopubmedrs104893707
geneviewrs104893707
scholarrs104893707
googlers104893707
pharmgkbrs104893707
gwascentralrs104893707
openSNPrs104893707
23andMers104893707
23andMe allrs104893707
SNP Nexus

SNPshotrs104893707
SNPdbers104893707
MSV3drs104893707
GWAS Ctlgrs104893707
Max Magnitude0
OMIM601199
Desc
Variant0036
Relatedalso
ClinVar
Risk rs104893707(A,T;A,T)
Alt rs104893707(A,T;A,T)
Reference rs104893707(C;C)
Significance Pathogenic
Disease Neonatal severe hyperparathyroidism
Variation info
Gene CASR
CLNDBN Neonatal severe hyperparathyroidism
Reversed 0
HGVS NC_000003.11:g.121980435C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008850.4,