rs104893706

Orientation

plus

Stabilized

plus

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

Make rs104893706(A;A)

Make rs104893706(A;C)

Reference

GRCh38 38.1/141

Chromosome

3

Position

122284482

Gene

CASR

is a	snp
is	mentioned by
dbSNP	rs104893706
dbSNP (classic)	rs104893706
ClinGen	rs104893706
ebi	rs104893706
HLI	rs104893706
Exac	rs104893706
Gnomad	rs104893706
Varsome	rs104893706
LitVar	rs104893706
Map	rs104893706
PheGenI	rs104893706
Biobank	rs104893706
1000 genomes	rs104893706
hgdp	rs104893706
ensembl	rs104893706
geneview	rs104893706
scholar	rs104893706
google	rs104893706
pharmgkb	rs104893706
gwascentral	rs104893706
openSNP	rs104893706
23andMe	rs104893706
SNPshot	rs104893706
SNPdbe	rs104893706
MSV3d	rs104893706
GWAS Ctlg	rs104893706

Max Magnitude

0

OMIM	601199
Desc
Variant	0034
Related	also

ClinVar
Risk	rs104893706(A;A)
Alt	rs104893706(A;A)
Reference	Rs104893706(C;C)
Significance	Pathogenic
Disease	Hypocalcemia
Variation	info
Gene	CASR
CLNDBN	Hypocalcemia, autosomal dominant 1, with bartter syndrome Hypocalcemia, autosomal dominant 1
Reversed	0
HGVS	NC_000003.11:g.122003329C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008847.6, RCV000054480.4,