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rs1060502842

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060502842(C;C)
Make rs1060502842(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position122283791
GeneCASR
is asnp
is mentioned by
dbSNPrs1060502842
dbSNP (old)rs1060502842
ClinGenrs1060502842
ebirs1060502842
HLIrs1060502842
Exacrs1060502842
Gnomadrs1060502842
Varsomers1060502842
LitVarrs1060502842
Maprs1060502842
PheGenIrs1060502842
Biobankrs1060502842
1000 genomesrs1060502842
hgdprs1060502842
ensemblrs1060502842
gopubmedrs1060502842
geneviewrs1060502842
scholarrs1060502842
googlers1060502842
pharmgkbrs1060502842
gwascentralrs1060502842
openSNPrs1060502842
23andMers1060502842
23andMe allrs1060502842
SNPshotrs1060502842
SNPdbers1060502842
MSV3drs1060502842
GWAS Ctlgrs1060502842
Max Magnitude0
ClinVar
Risk rs1060502842(C;C)
Alt rs1060502842(C;C)
Reference Rs1060502842(G;G)
Significance Probable-Pathogenic
Disease not provided Hypocalcemia Hypocalciuric hypercalcemia
Variation info
Gene CASR
CLNDBN not provided Hypocalcemia, autosomal dominant 1 Hypocalciuric hypercalcemia, familial, type 1
Reversed 0
HGVS NC_000003.11:g.122002638G>A; NC_000003.11:g.122002638G>C
CLNSRC
CLNACC RCV000494527.1, RCV000464016.1,