rs104893690

Orientation

plus

Stabilized

plus

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

Make rs104893690(A;A)

Make rs104893690(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

122283699

Gene

CASR

is a	snp
is	mentioned by
dbSNP	rs104893690
dbSNP (classic)	rs104893690
ClinGen	rs104893690
ebi	rs104893690
HLI	rs104893690
Exac	rs104893690
Gnomad	rs104893690
Varsome	rs104893690
LitVar	rs104893690
Map	rs104893690
PheGenI	rs104893690
Biobank	rs104893690
1000 genomes	rs104893690
hgdp	rs104893690
ensembl	rs104893690
geneview	rs104893690
scholar	rs104893690
google	rs104893690
pharmgkb	rs104893690
gwascentral	rs104893690
openSNP	rs104893690
23andMe	rs104893690
SNPshot	rs104893690
SNPdbe	rs104893690
MSV3d	rs104893690
GWAS Ctlg	rs104893690

Max Magnitude

0

OMIM	601199
Desc
Variant	0047
Related	also

OMIM	601199
Desc
Variant	0007
Related	also

ClinVar
Risk	rs104893690(A;A) rs104893690(T;T)
Alt	rs104893690(A;A) rs104893690(T;T)
Reference	Rs104893690(G;G)
Significance	Pathogenic
Disease	Neonatal severe hyperparathyroidism Hypocalcemia Hypocalciuric hypercalcemia
Variation	info
Gene	CASR
CLNDBN	Neonatal severe hyperparathyroidism Hypocalcemia, autosomal dominant 1 Hypocalciuric hypercalcemia, familial, type 1
Reversed	0
HGVS	NC_000003.11:g.122002546G>A; NC_000003.11:g.122002546G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008819.6, RCV000477640.1, RCV000008861.4,