rs104893718

Orientation

plus

Stabilized

plus

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

Make rs104893718(A;A)

Make rs104893718(A;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

122284134

Gene

CASR

is a	snp
is	mentioned by
dbSNP	rs104893718
dbSNP (classic)	rs104893718
ClinGen	rs104893718
ebi	rs104893718
HLI	rs104893718
Exac	rs104893718
Gnomad	rs104893718
Varsome	rs104893718
LitVar	rs104893718
Map	rs104893718
PheGenI	rs104893718
Biobank	rs104893718
1000 genomes	rs104893718
hgdp	rs104893718
ensembl	rs104893718
geneview	rs104893718
scholar	rs104893718
google	rs104893718
pharmgkb	rs104893718
gwascentral	rs104893718
openSNP	rs104893718
23andMe	rs104893718
SNPshot	rs104893718
SNPdbe	rs104893718
MSV3d	rs104893718
GWAS Ctlg	rs104893718

Max Magnitude

0

OMIM	601199
Desc
Variant	0045
Related	also

ClinVar
Risk	rs104893718(A;A)
Alt	rs104893718(A;A)
Reference	Rs104893718(T;T)
Significance	Pathogenic
Disease	Hypocalcemia
Variation	info
Gene	CASR
CLNDBN	Hypocalcemia, autosomal dominant 1
Reversed	0
HGVS	NC_000003.11:g.122002981T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008859.5,