rs193922431

Orientation

plus

Stabilized

plus

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

Make rs193922431(A;A)

Make rs193922431(A;C)

Reference

GRCh38 38.1/141

Chromosome

3

Position

122283968

Gene

CASR

is a	snp
is	mentioned by
dbSNP	rs193922431
dbSNP (classic)	rs193922431
ClinGen	rs193922431
ebi	rs193922431
HLI	rs193922431
Exac	rs193922431
Gnomad	rs193922431
Varsome	rs193922431
LitVar	rs193922431
Map	rs193922431
PheGenI	rs193922431
Biobank	rs193922431
1000 genomes	rs193922431
hgdp	rs193922431
ensembl	rs193922431
geneview	rs193922431
scholar	rs193922431
google	rs193922431
pharmgkb	rs193922431
gwascentral	rs193922431
openSNP	rs193922431
23andMe	rs193922431
SNPshot	rs193922431
SNPdbe	rs193922431
MSV3d	rs193922431
GWAS Ctlg	rs193922431

Max Magnitude

0

ClinVar
Risk	rs193922431(A;A)
Alt	rs193922431(A;A)
Reference	Rs193922431(C;C)
Significance	Probable-Pathogenic
Disease	Familial hypocalciuric hypercalcemia
Variation	info
Gene	CASR
CLNDBN	Familial hypocalciuric hypercalcemia
Reversed	0
HGVS	NC_000003.11:g.122002815C>A
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029438.1,