rs104893694

Orientation

plus

Stabilized

plus

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

Make rs104893694(C;T)

Make rs104893694(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

122257347

Gene

CASR

is a	snp
is	mentioned by
dbSNP	rs104893694
dbSNP (classic)	rs104893694
ClinGen	rs104893694
ebi	rs104893694
HLI	rs104893694
Exac	rs104893694
Gnomad	rs104893694
Varsome	rs104893694
LitVar	rs104893694
Map	rs104893694
PheGenI	rs104893694
Biobank	rs104893694
1000 genomes	rs104893694
hgdp	rs104893694
ensembl	rs104893694
geneview	rs104893694
scholar	rs104893694
google	rs104893694
pharmgkb	rs104893694
gwascentral	rs104893694
openSNP	rs104893694
23andMe	rs104893694
SNPshot	rs104893694
SNPdbe	rs104893694
MSV3d	rs104893694
GWAS Ctlg	rs104893694

Max Magnitude

0

OMIM	601199
Desc
Variant	0012
Related	also

ClinVar
Risk	rs104893694(T;T)
Alt	rs104893694(T;T)
Reference	Rs104893694(C;C)
Significance	Pathogenic
Disease	Hypocalcemia
Variation	info
Gene	CASR
CLNDBN	Hypocalcemia, autosomal dominant 1
Reversed	0
HGVS	NC_000003.11:g.121976194C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008824.5,