rs104893696

Orientation

plus

Stabilized

plus

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

Make rs104893696(C;C)

Make rs104893696(C;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

122257277

Gene

CASR

is a	snp
is	mentioned by
dbSNP	rs104893696
dbSNP (classic)	rs104893696
ClinGen	rs104893696
ebi	rs104893696
HLI	rs104893696
Exac	rs104893696
Gnomad	rs104893696
Varsome	rs104893696
LitVar	rs104893696
Map	rs104893696
PheGenI	rs104893696
Biobank	rs104893696
1000 genomes	rs104893696
hgdp	rs104893696
ensembl	rs104893696
geneview	rs104893696
scholar	rs104893696
google	rs104893696
pharmgkb	rs104893696
gwascentral	rs104893696
openSNP	rs104893696
23andMe	rs104893696
SNPshot	rs104893696
SNPdbe	rs104893696
MSV3d	rs104893696
GWAS Ctlg	rs104893696

Max Magnitude

0

OMIM	601199
Desc
Variant	0014
Related	also

ClinVar
Risk	rs104893696(C;C)
Alt	rs104893696(C;C)
Reference	Rs104893696(T;T)
Significance	Pathogenic
Disease	Hypocalcemia
Variation	info
Gene	CASR
CLNDBN	Hypocalcemia, autosomal dominant 1
Reversed	0
HGVS	NC_000003.11:g.121976124T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008827.4,