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rs1060502847

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CG;CG) 0 common in clinvar
Make rs1060502847(CG;TT)
Make rs1060502847(TT;TT)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position122254353
GeneCASR
is asnp
is mentioned by
dbSNPrs1060502847
dbSNP (old)rs1060502847
ClinGenrs1060502847
ebirs1060502847
HLIrs1060502847
Exacrs1060502847
Gnomadrs1060502847
Varsomers1060502847
Maprs1060502847
PheGenIrs1060502847
Biobankrs1060502847
1000 genomesrs1060502847
hgdprs1060502847
ensemblrs1060502847
gopubmedrs1060502847
geneviewrs1060502847
scholarrs1060502847
googlers1060502847
pharmgkbrs1060502847
gwascentralrs1060502847
openSNPrs1060502847
23andMers1060502847
23andMe allrs1060502847
SNPshotrs1060502847
SNPdbers1060502847
MSV3drs1060502847
GWAS Ctlgrs1060502847
Max Magnitude0
ClinVar
Risk rs1060502847(TT;TT)
Alt rs1060502847(TT;TT)
Reference Rs1060502847(CG;CG)
Significance Pathogenic
Disease Hypocalciuric hypercalcemia
Variation info
Gene CASR
CLNDBN Hypocalciuric hypercalcemia, familial, type 1
Reversed 0
HGVS NC_000003.11:g.121973200_121973201delCGinsTT
CLNSRC
CLNACC RCV000465913.1,