rs1060502847

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(CG;CG)	0	common in clinvar

Make rs1060502847(CG;TT)

Make rs1060502847(TT;TT)

Reference

GRCh38.p7 38.3/150

Chromosome

3

Position

122254353

Gene

CASR

is a	snp
is	mentioned by
dbSNP	rs1060502847
dbSNP (classic)	rs1060502847
ClinGen	rs1060502847
ebi	rs1060502847
HLI	rs1060502847
Exac	rs1060502847
Gnomad	rs1060502847
Varsome	rs1060502847
LitVar	rs1060502847
Map	rs1060502847
PheGenI	rs1060502847
Biobank	rs1060502847
1000 genomes	rs1060502847
hgdp	rs1060502847
ensembl	rs1060502847
geneview	rs1060502847
scholar	rs1060502847
google	rs1060502847
pharmgkb	rs1060502847
gwascentral	rs1060502847
openSNP	rs1060502847
23andMe	rs1060502847
SNPshot	rs1060502847
SNPdbe	rs1060502847
MSV3d	rs1060502847
GWAS Ctlg	rs1060502847

Max Magnitude

0

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,