rs104893705

Orientation

plus

Stabilized

plus

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

Make rs104893705(C;T)

Make rs104893705(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

122283896

Gene

CASR

is a	snp
is	mentioned by
dbSNP	rs104893705
dbSNP (classic)	rs104893705
ClinGen	rs104893705
ebi	rs104893705
HLI	rs104893705
Exac	rs104893705
Gnomad	rs104893705
Varsome	rs104893705
LitVar	rs104893705
Map	rs104893705
PheGenI	rs104893705
Biobank	rs104893705
1000 genomes	rs104893705
hgdp	rs104893705
ensembl	rs104893705
geneview	rs104893705
scholar	rs104893705
google	rs104893705
pharmgkb	rs104893705
gwascentral	rs104893705
openSNP	rs104893705
23andMe	rs104893705
SNPshot	rs104893705
SNPdbe	rs104893705
MSV3d	rs104893705
GWAS Ctlg	rs104893705

Max Magnitude

0

OMIM	601199
Desc
Variant	0032
Related	also

ClinVar
Risk	rs104893705(A;A) rs104893705(G;G) rs104893705(T;T)
Alt	rs104893705(A;A) rs104893705(G;G) rs104893705(T;T)
Reference	Rs104893705(C;C)
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.122002743C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008843.5, RCV000054484.4,