rs104893717

Orientation

plus

Stabilized

plus

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

Make rs104893717(C;C)

Make rs104893717(C;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

122254227

Gene

CASR

is a	snp
is	mentioned by
dbSNP	rs104893717
dbSNP (classic)	rs104893717
ClinGen	rs104893717
ebi	rs104893717
HLI	rs104893717
Exac	rs104893717
Gnomad	rs104893717
Varsome	rs104893717
LitVar	rs104893717
Map	rs104893717
PheGenI	rs104893717
Biobank	rs104893717
1000 genomes	rs104893717
hgdp	rs104893717
ensembl	rs104893717
geneview	rs104893717
scholar	rs104893717
google	rs104893717
pharmgkb	rs104893717
gwascentral	rs104893717
openSNP	rs104893717
23andMe	rs104893717
SNPshot	rs104893717
SNPdbe	rs104893717
MSV3d	rs104893717
GWAS Ctlg	rs104893717

Max Magnitude

0

OMIM	601199
Desc
Variant	0044
Related	also

ClinVar
Risk	rs104893717(C;C)
Alt	rs104893717(C;C)
Reference	Rs104893717(T;T)
Significance	Pathogenic
Disease	Hypocalciuric hypercalcemia
Variation	info
Gene	CASR
CLNDBN	Hypocalciuric hypercalcemia, familial, type 1
Reversed	0
HGVS	NC_000003.11:g.121973074T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008858.5,