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rs104893700

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893700(A;A)
Make rs104893700(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position122283963
GeneCASR
is asnp
is mentioned by
dbSNPrs104893700
ebirs104893700
HLIrs104893700
Exacrs104893700
Varsomers104893700
Maprs104893700
PheGenIrs104893700
hapmaprs104893700
1000 genomesrs104893700
hgdprs104893700
ensemblrs104893700
gopubmedrs104893700
geneviewrs104893700
scholarrs104893700
googlers104893700
pharmgkbrs104893700
gwascentralrs104893700
openSNPrs104893700
23andMers104893700
23andMe allrs104893700
SNP Nexus

SNPshotrs104893700
SNPdbers104893700
MSV3drs104893700
GWAS Ctlgrs104893700
Max Magnitude0
OMIM601199
Desc
Variant0020
Relatedalso
ClinVar
Risk rs104893700(A;A)
Alt rs104893700(A;A)
Reference rs104893700(G;G)
Significance Pathogenic
Disease Neonatal severe hyperparathyroidism
Variation info
Gene CASR
CLNDBN Neonatal severe hyperparathyroidism
Reversed 0
HGVS NC_000003.11:g.122002810G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008831.4,