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rs142704083

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs142704083(A;A)
Make rs142704083(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position122285045
GeneCASR
is asnp
is mentioned by
dbSNPrs142704083
ebirs142704083
HLIrs142704083
Exacrs142704083
Varsomers142704083
Maprs142704083
PheGenIrs142704083
hapmaprs142704083
1000 genomesrs142704083
hgdprs142704083
ensemblrs142704083
gopubmedrs142704083
geneviewrs142704083
scholarrs142704083
googlers142704083
pharmgkbrs142704083
gwascentralrs142704083
openSNPrs142704083
23andMers142704083
23andMe allrs142704083
SNP Nexus

SNPshotrs142704083
SNPdbers142704083
MSV3drs142704083
GWAS Ctlgrs142704083
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs142704083(A;A)
Alt rs142704083(A;A)
Reference rs142704083(G;G)
Significance Probable-Pathogenic
Disease Familial hypocalciuric hypercalcemia
Variation info
Gene CASR
CLNDBN Familial hypocalciuric hypercalcemia
Reversed 0
HGVS NC_000003.11:g.122003892G>A
CLNSRC ClinVar LabCorp
CLNACC RCV000029449.1,