rs104893693

Orientation

plus

Stabilized

plus

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

Make rs104893693(C;C)

Make rs104893693(C;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

122284371

Gene

CASR

is a	snp
is	mentioned by
dbSNP	rs104893693
dbSNP (classic)	rs104893693
ClinGen	rs104893693
ebi	rs104893693
HLI	rs104893693
Exac	rs104893693
Gnomad	rs104893693
Varsome	rs104893693
LitVar	rs104893693
Map	rs104893693
PheGenI	rs104893693
Biobank	rs104893693
1000 genomes	rs104893693
hgdp	rs104893693
ensembl	rs104893693
geneview	rs104893693
scholar	rs104893693
google	rs104893693
pharmgkb	rs104893693
gwascentral	rs104893693
openSNP	rs104893693
23andMe	rs104893693
SNPshot	rs104893693
SNPdbe	rs104893693
MSV3d	rs104893693
GWAS Ctlg	rs104893693

Max Magnitude

0

OMIM	601199
Desc
Variant	0011
Related	also

ClinVar
Risk	rs104893693(A;A) rs104893693(C;C)
Alt	rs104893693(A;A) rs104893693(C;C)
Reference	Rs104893693(T;T)
Significance	Pathogenic
Disease	Hypocalcemia
Variation	info
Gene	CASR
CLNDBN	Hypocalcemia, autosomal dominant 1
Reversed	0
HGVS	NC_000003.11:g.122003218T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008823.4,