rs104893689

Orientation

plus

Stabilized

plus

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

Make rs104893689(A;A)

Make rs104893689(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

122261589

Gene

CASR

is a	snp
is	mentioned by
dbSNP	rs104893689
dbSNP (classic)	rs104893689
ClinGen	rs104893689
ebi	rs104893689
HLI	rs104893689
Exac	rs104893689
Gnomad	rs104893689
Varsome	rs104893689
LitVar	rs104893689
Map	rs104893689
PheGenI	rs104893689
Biobank	rs104893689
1000 genomes	rs104893689
hgdp	rs104893689
ensembl	rs104893689
geneview	rs104893689
scholar	rs104893689
google	rs104893689
pharmgkb	rs104893689
gwascentral	rs104893689
openSNP	rs104893689
23andMe	rs104893689
SNPshot	rs104893689
SNPdbe	rs104893689
MSV3d	rs104893689
GWAS Ctlg	rs104893689

Max Magnitude

0

OMIM	601199
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104893689(A;A)
Alt	rs104893689(A;A)
Reference	Rs104893689(G;G)
Significance	Pathogenic
Disease	Hypocalciuric hypercalcemia Neonatal severe hyperparathyroidism not provided
Variation	info
Gene	CASR
CLNDBN	Hypocalciuric hypercalcemia, familial, type 1 Neonatal severe hyperparathyroidism not provided
Reversed	0
HGVS	NC_000003.11:g.121980436G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008813.6, RCV000008814.5, RCV000412784.1,