rs104893711

Orientation

plus

Stabilized

plus

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

Make rs104893711(C;C)

Make rs104893711(C;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

122284316

Gene

CASR

is a	snp
is	mentioned by
dbSNP	rs104893711
dbSNP (classic)	rs104893711
ClinGen	rs104893711
ebi	rs104893711
HLI	rs104893711
Exac	rs104893711
Gnomad	rs104893711
Varsome	rs104893711
LitVar	rs104893711
Map	rs104893711
PheGenI	rs104893711
Biobank	rs104893711
1000 genomes	rs104893711
hgdp	rs104893711
ensembl	rs104893711
geneview	rs104893711
scholar	rs104893711
google	rs104893711
pharmgkb	rs104893711
gwascentral	rs104893711
openSNP	rs104893711
23andMe	rs104893711
SNPshot	rs104893711
SNPdbe	rs104893711
MSV3d	rs104893711
GWAS Ctlg	rs104893711

Max Magnitude

0

OMIM	601199
Desc
Variant	0039
Related	also

ClinVar
Risk	rs104893711(C;C)
Alt	rs104893711(C;C)
Reference	Rs104893711(T;T)
Significance	Pathogenic
Disease	Hypocalcemia
Variation	info
Gene	CASR
CLNDBN	Hypocalcemia, autosomal dominant 1
Reversed	0
HGVS	NC_000003.11:g.122003163T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008853.6,