rs28936684

Orientation

plus

Stabilized

plus

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

Make rs28936684(G;T)

Make rs28936684(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

122261715

Gene

CASR

is a	snp
is	mentioned by
dbSNP	rs28936684
dbSNP (classic)	rs28936684
ClinGen	rs28936684
ebi	rs28936684
HLI	rs28936684
Exac	rs28936684
Gnomad	rs28936684
Varsome	rs28936684
LitVar	rs28936684
Map	rs28936684
PheGenI	rs28936684
Biobank	rs28936684
1000 genomes	rs28936684
hgdp	rs28936684
ensembl	rs28936684
geneview	rs28936684
scholar	rs28936684
google	rs28936684
pharmgkb	rs28936684
gwascentral	rs28936684
openSNP	rs28936684
23andMe	rs28936684
SNPshot	rs28936684
SNPdbe	rs28936684
MSV3d	rs28936684
GWAS Ctlg	rs28936684

Max Magnitude

0

OMIM	601199
Desc	HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY
Variant	0006
Related	also

OMIM	601199
Desc
Variant	0049
Related	also

ClinVar
Risk	rs28936684(A;A) rs28936684(T;T)
Alt	rs28936684(A;A) rs28936684(T;T)
Reference	Rs28936684(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.121980562G>A; NC_000003.11:g.121980562G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008833.7, RCV000008818.6,