rs797044441

Orientation

plus

Stabilized

plus

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

Make rs797044441(G;T)

Make rs797044441(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

3

Position

122257080

Gene

CASR

is a	snp
is	mentioned by
dbSNP	rs797044441
dbSNP (classic)	rs797044441
ClinGen	rs797044441
ebi	rs797044441
HLI	rs797044441
Exac	rs797044441
Gnomad	rs797044441
Varsome	rs797044441
LitVar	rs797044441
Map	rs797044441
PheGenI	rs797044441
Biobank	rs797044441
1000 genomes	rs797044441
hgdp	rs797044441
ensembl	rs797044441
geneview	rs797044441
scholar	rs797044441
google	rs797044441
pharmgkb	rs797044441
gwascentral	rs797044441
openSNP	rs797044441
23andMe	rs797044441
SNPshot	rs797044441
SNPdbe	rs797044441
MSV3d	rs797044441
GWAS Ctlg	rs797044441

Max Magnitude

0

ClinVar
Risk	rs797044441(T;T)
Alt	rs797044441(T;T)
Reference	Rs797044441(G;G)
Significance	Pathogenic
Disease	Hypocalciuric hypercalcemia Neonatal severe hyperparathyroidism
Variation	info
Gene	CASR
CLNDBN	Hypocalciuric hypercalcemia, familial, type 1 Neonatal severe hyperparathyroidism
Reversed	0
HGVS	NC_000003.11:g.121975927G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008845.6, RCV000054485.3,