rs397514728

Orientation

plus

Stabilized

plus

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

Make rs397514728(C;T)

Make rs397514728(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

122261697

Gene

CASR

is a	snp
is	mentioned by
dbSNP	rs397514728
dbSNP (classic)	rs397514728
ClinGen	rs397514728
ebi	rs397514728
HLI	rs397514728
Exac	rs397514728
Gnomad	rs397514728
Varsome	rs397514728
LitVar	rs397514728
Map	rs397514728
PheGenI	rs397514728
Biobank	rs397514728
1000 genomes	rs397514728
hgdp	rs397514728
ensembl	rs397514728
geneview	rs397514728
scholar	rs397514728
google	rs397514728
pharmgkb	rs397514728
gwascentral	rs397514728
openSNP	rs397514728
23andMe	rs397514728
SNPshot	rs397514728
SNPdbe	rs397514728
MSV3d	rs397514728
GWAS Ctlg	rs397514728

Max Magnitude

0

ClinVar
Risk	rs397514728(A;A) rs397514728(T;T)
Alt	rs397514728(A;A) rs397514728(T;T)
Reference	Rs397514728(C;C)
Significance	Pathogenic
Disease	Hypocalciuric hypercalcemia Hypocalcemia
Variation	info
Gene	CASR
CLNDBN	Hypocalciuric hypercalcemia, familial, type 1 Hypocalcemia, autosomal dominant 1
Reversed	0
HGVS	NC_000003.11:g.121980544C>A; NC_000003.11:g.121980544C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000054482.3, RCV000054481.4,