rs104893707

Orientation

plus

Stabilized

plus

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

Make rs104893707(C;T)

Make rs104893707(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

122261588

Gene

CASR

is a	snp
is	mentioned by
dbSNP	rs104893707
dbSNP (classic)	rs104893707
ClinGen	rs104893707
ebi	rs104893707
HLI	rs104893707
Exac	rs104893707
Gnomad	rs104893707
Varsome	rs104893707
LitVar	rs104893707
Map	rs104893707
PheGenI	rs104893707
Biobank	rs104893707
1000 genomes	rs104893707
hgdp	rs104893707
ensembl	rs104893707
geneview	rs104893707
scholar	rs104893707
google	rs104893707
pharmgkb	rs104893707
gwascentral	rs104893707
openSNP	rs104893707
23andMe	rs104893707
SNPshot	rs104893707
SNPdbe	rs104893707
MSV3d	rs104893707
GWAS Ctlg	rs104893707

Max Magnitude

0

OMIM	601199
Desc
Variant	0036
Related	also

ClinVar
Risk	rs104893707(A;A) rs104893707(T;T)
Alt	rs104893707(A;A) rs104893707(T;T)
Reference	Rs104893707(C;C)
Significance	Pathogenic
Disease	Neonatal severe hyperparathyroidism
Variation	info
Gene	CASR
CLNDBN	Neonatal severe hyperparathyroidism
Reversed	0
HGVS	NC_000003.11:g.121980435C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008850.4,