rs193922432

Orientation

plus

Stabilized

plus

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

Make rs193922432(A;A)

Make rs193922432(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

122257101

Gene

CASR

is a	snp
is	mentioned by
dbSNP	rs193922432
dbSNP (classic)	rs193922432
ClinGen	rs193922432
ebi	rs193922432
HLI	rs193922432
Exac	rs193922432
Gnomad	rs193922432
Varsome	rs193922432
LitVar	rs193922432
Map	rs193922432
PheGenI	rs193922432
Biobank	rs193922432
1000 genomes	rs193922432
hgdp	rs193922432
ensembl	rs193922432
geneview	rs193922432
scholar	rs193922432
google	rs193922432
pharmgkb	rs193922432
gwascentral	rs193922432
openSNP	rs193922432
23andMe	rs193922432
SNPshot	rs193922432
SNPdbe	rs193922432
MSV3d	rs193922432
GWAS Ctlg	rs193922432

Max Magnitude

0

ClinVar
Risk	rs193922432(A;A)
Alt	rs193922432(A;A)
Reference	Rs193922432(G;G)
Significance	Probable-Pathogenic
Disease	Familial hypocalciuric hypercalcemia Hypocalcemia Hypocalciuric hypercalcemia
Variation	info
Gene	CASR
CLNDBN	Familial hypocalciuric hypercalcemia Hypocalcemia, autosomal dominant 1 Hypocalciuric hypercalcemia, familial, type 1
Reversed	0
HGVS	NC_000003.11:g.121975948G>A
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029439.1, RCV000465400.1,