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rs869320729

From SNPedia

Orientationplus
Geno Mag Summary
(CC;CC) 0 common in clinvar
Make rs869320729(CC;T)
Make rs869320729(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position122284195
GeneCASR
is asnp
is mentioned by
dbSNPrs869320729
ebirs869320729
HLIrs869320729
Exacrs869320729
Varsomers869320729
Maprs869320729
PheGenIrs869320729
hapmaprs869320729
1000 genomesrs869320729
hgdprs869320729
ensemblrs869320729
gopubmedrs869320729
geneviewrs869320729
scholarrs869320729
googlers869320729
pharmgkbrs869320729
gwascentralrs869320729
openSNPrs869320729
23andMers869320729
23andMe allrs869320729
SNP Nexus

SNPshotrs869320729
SNPdbers869320729
MSV3drs869320729
GWAS Ctlgrs869320729
Max Magnitude0
ClinVar
Risk rs869320729(T;T)
Alt rs869320729(T;T)
Reference rs869320729(CC;CC)
Significance Pathogenic
Disease Neonatal severe hyperparathyroidism
Variation info
Gene CASR
CLNDBN Neonatal severe hyperparathyroidism
Reversed 0
HGVS NC_000003.11:g.122003042_122003043delCCinsT
CLNSRC OMIM Allelic Variant
CLNACC RCV000008820.4,