rs193922430

Orientation

plus

Stabilized

plus

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

Make rs193922430(A;A)

Make rs193922430(A;C)

Reference

GRCh38 38.1/141

Chromosome

3

Position

122283888

Gene

CASR

is a	snp
is	mentioned by
dbSNP	rs193922430
dbSNP (classic)	rs193922430
ClinGen	rs193922430
ebi	rs193922430
HLI	rs193922430
Exac	rs193922430
Gnomad	rs193922430
Varsome	rs193922430
LitVar	rs193922430
Map	rs193922430
PheGenI	rs193922430
Biobank	rs193922430
1000 genomes	rs193922430
hgdp	rs193922430
ensembl	rs193922430
geneview	rs193922430
scholar	rs193922430
google	rs193922430
pharmgkb	rs193922430
gwascentral	rs193922430
openSNP	rs193922430
23andMe	rs193922430
SNPshot	rs193922430
SNPdbe	rs193922430
MSV3d	rs193922430
GWAS Ctlg	rs193922430

Max Magnitude

0

ClinVar
Risk	rs193922430(A;A)
Alt	rs193922430(A;A)
Reference	Rs193922430(C;C)
Significance	Probable-Pathogenic
Disease	Hypoparathyroidism familial isolated
Variation	info
Gene	CASR
CLNDBN	Hypoparathyroidism familial isolated
Reversed	0
HGVS	NC_000003.11:g.122002735C>A
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029437.1,