rs104893708

Orientation

plus

Stabilized

plus

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

Make rs104893708(C;C)

Make rs104893708(C;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

122257269

Gene

CASR

is a	snp
is	mentioned by
dbSNP	rs104893708
dbSNP (classic)	rs104893708
ClinGen	rs104893708
ebi	rs104893708
HLI	rs104893708
Exac	rs104893708
Gnomad	rs104893708
Varsome	rs104893708
LitVar	rs104893708
Map	rs104893708
PheGenI	rs104893708
Biobank	rs104893708
1000 genomes	rs104893708
hgdp	rs104893708
ensembl	rs104893708
geneview	rs104893708
scholar	rs104893708
google	rs104893708
pharmgkb	rs104893708
gwascentral	rs104893708
openSNP	rs104893708
23andMe	rs104893708
SNPshot	rs104893708
SNPdbe	rs104893708
MSV3d	rs104893708
GWAS Ctlg	rs104893708

Max Magnitude

0

OMIM	601199
Desc
Variant	0037
Related	also

ClinVar
Risk	rs104893708(C;C)
Alt	rs104893708(C;C)
Reference	Rs104893708(T;T)
Significance	Pathogenic
Disease	Hypocalcemia
Variation	info
Gene	CASR
CLNDBN	Hypocalcemia, autosomal dominant 1 Hypocalcemia, autosomal dominant 1, with bartter syndrome
Reversed	0
HGVS	NC_000003.11:g.121976116T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008851.5, RCV000190877.3,