rs1057518933

Orientation

plus

Stabilized

plus

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

Make rs1057518933(A;A)

Make rs1057518933(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

3

Position

122284403

Gene

CASR

is a	snp
is	mentioned by
dbSNP	rs1057518933
dbSNP (classic)	rs1057518933
ClinGen	rs1057518933
ebi	rs1057518933
HLI	rs1057518933
Exac	rs1057518933
Gnomad	rs1057518933
Varsome	rs1057518933
LitVar	rs1057518933
Map	rs1057518933
PheGenI	rs1057518933
Biobank	rs1057518933
1000 genomes	rs1057518933
hgdp	rs1057518933
ensembl	rs1057518933
geneview	rs1057518933
scholar	rs1057518933
google	rs1057518933
pharmgkb	rs1057518933
gwascentral	rs1057518933
openSNP	rs1057518933
23andMe	rs1057518933
SNPshot	rs1057518933
SNPdbe	rs1057518933
MSV3d	rs1057518933
GWAS Ctlg	rs1057518933

Max Magnitude

0

ClinVar
Risk	rs1057518933(A;A)
Alt	rs1057518933(A;A)
Reference	Rs1057518933(G;G)
Significance	Probable-Pathogenic
Disease	Hypercalcemia Hypertrophic cardiomyopathy Hypocalciuria Parathyroid adenoma
Variation	info
Gene	CASR
CLNDBN	Hypercalcemia Hypertrophic cardiomyopathy Hypocalciuria Parathyroid adenoma
Reversed	0
HGVS	NC_000003.11:g.122003250G>A
CLNSRC
CLNACC	RCV000415394.1,