rs104893700

Orientation

plus

Stabilized

plus

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

Make rs104893700(A;A)

Make rs104893700(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

122283963

Gene

CASR

is a	snp
is	mentioned by
dbSNP	rs104893700
dbSNP (classic)	rs104893700
ClinGen	rs104893700
ebi	rs104893700
HLI	rs104893700
Exac	rs104893700
Gnomad	rs104893700
Varsome	rs104893700
LitVar	rs104893700
Map	rs104893700
PheGenI	rs104893700
Biobank	rs104893700
1000 genomes	rs104893700
hgdp	rs104893700
ensembl	rs104893700
geneview	rs104893700
scholar	rs104893700
google	rs104893700
pharmgkb	rs104893700
gwascentral	rs104893700
openSNP	rs104893700
23andMe	rs104893700
SNPshot	rs104893700
SNPdbe	rs104893700
MSV3d	rs104893700
GWAS Ctlg	rs104893700

Max Magnitude

0

OMIM	601199
Desc
Variant	0020
Related	also

ClinVar
Risk	rs104893700(A;A)
Alt	rs104893700(A;A)
Reference	Rs104893700(G;G)
Significance	Pathogenic
Disease	Neonatal severe hyperparathyroidism
Variation	info
Gene	CASR
CLNDBN	Neonatal severe hyperparathyroidism
Reversed	0
HGVS	NC_000003.11:g.122002810G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008831.5,