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rs142745096

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs142745096(C;C)
Make rs142745096(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position122261883
GeneCASR
is asnp
is mentioned by
dbSNPrs142745096
dbSNP (old)rs142745096
ClinGenrs142745096
ebirs142745096
HLIrs142745096
Exacrs142745096
Gnomadrs142745096
Varsomers142745096
Maprs142745096
PheGenIrs142745096
Biobankrs142745096
1000 genomesrs142745096
hgdprs142745096
ensemblrs142745096
gopubmedrs142745096
geneviewrs142745096
scholarrs142745096
googlers142745096
pharmgkbrs142745096
gwascentralrs142745096
openSNPrs142745096
23andMers142745096
23andMe allrs142745096
SNPshotrs142745096
SNPdbers142745096
MSV3drs142745096
GWAS Ctlgrs142745096
Max Magnitude0
ClinVar
Risk rs142745096(C;C)
Alt rs142745096(C;C)
Reference Rs142745096(T;T)
Significance Pathogenic
Disease Hypocalcemia Hypocalciuric hypercalcemia not provided
Variation info
Gene CASR
CLNDBN Hypocalcemia, autosomal dominant 1 Hypocalciuric hypercalcemia, familial, type 1 not provided
Reversed 0
HGVS NC_000003.11:g.121980730T>C
CLNSRC
CLNACC RCV000463689.1, RCV000493534.1,