rs193922441

Orientation

plus

Stabilized

plus

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

Make rs193922441(A;G)

Make rs193922441(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

122261531

Gene

CASR

is a	snp
is	mentioned by
dbSNP	rs193922441
dbSNP (classic)	rs193922441
ClinGen	rs193922441
ebi	rs193922441
HLI	rs193922441
Exac	rs193922441
Gnomad	rs193922441
Varsome	rs193922441
LitVar	rs193922441
Map	rs193922441
PheGenI	rs193922441
Biobank	rs193922441
1000 genomes	rs193922441
hgdp	rs193922441
ensembl	rs193922441
geneview	rs193922441
scholar	rs193922441
google	rs193922441
pharmgkb	rs193922441
gwascentral	rs193922441
openSNP	rs193922441
23andMe	rs193922441
SNPshot	rs193922441
SNPdbe	rs193922441
MSV3d	rs193922441
GWAS Ctlg	rs193922441

Max Magnitude

0

ClinVar
Risk	rs193922441(G;G)
Alt	rs193922441(G;G)
Reference	Rs193922441(A;A)
Significance	Probable-Pathogenic
Disease	Familial hypocalciuric hypercalcemia
Variation	info
Gene	CASR
CLNDBN	Familial hypocalciuric hypercalcemia
Reversed	0
HGVS	NC_000003.11:g.121980378A>G
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029452.1,

[PMID 19179454] Calcium-sensing receptor mutations and denaturing high performance liquid chromatography.