rs104893695

Orientation

plus

Stabilized

plus

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

Make rs104893695(A;A)

Make rs104893695(A;C)

Reference

GRCh38 38.1/141

Chromosome

3

Position

122257249

Gene

CASR

is a	snp
is	mentioned by
dbSNP	rs104893695
dbSNP (classic)	rs104893695
ClinGen	rs104893695
ebi	rs104893695
HLI	rs104893695
Exac	rs104893695
Gnomad	rs104893695
Varsome	rs104893695
LitVar	rs104893695
Map	rs104893695
PheGenI	rs104893695
Biobank	rs104893695
1000 genomes	rs104893695
hgdp	rs104893695
ensembl	rs104893695
geneview	rs104893695
scholar	rs104893695
google	rs104893695
pharmgkb	rs104893695
gwascentral	rs104893695
openSNP	rs104893695
23andMe	rs104893695
SNPshot	rs104893695
SNPdbe	rs104893695
MSV3d	rs104893695
GWAS Ctlg	rs104893695

Max Magnitude

0

OMIM	601199
Desc
Variant	0013
Related	also

ClinVar
Risk	rs104893695(A;A)
Alt	rs104893695(A;A)
Reference	Rs104893695(C;C)
Significance	Pathogenic
Disease	Hypocalcemia
Variation	info
Gene	CASR
CLNDBN	Hypocalcemia, autosomal dominant 1
Reversed	0
HGVS	NC_000003.11:g.121976096C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008825.4,