rs193922422

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(GTTT;GTTT)	0	common in clinvar
(I;I)	0	common genotype
(TGTT;TGTT)	0	common in clinvar

Make rs193922422(-;-)

Make rs193922422(-;GTTT)

Reference

GRCh38 38.1/141

Chromosome

3

Position

122275946

Gene

CASR

is a	snp
is	mentioned by
dbSNP	rs193922422
dbSNP (classic)	rs193922422
ClinGen	rs193922422
ebi	rs193922422
HLI	rs193922422
Exac	rs193922422
Gnomad	rs193922422
Varsome	rs193922422
LitVar	rs193922422
Map	rs193922422
PheGenI	rs193922422
Biobank	rs193922422
1000 genomes	rs193922422
hgdp	rs193922422
ensembl	rs193922422
geneview	rs193922422
scholar	rs193922422
google	rs193922422
pharmgkb	rs193922422
gwascentral	rs193922422
openSNP	rs193922422
23andMe	rs193922422
SNPshot	rs193922422
SNPdbe	rs193922422
MSV3d	rs193922422
GWAS Ctlg	rs193922422

Max Magnitude

0

ClinVar
Risk	rs193922422(-;-)
Alt	rs193922422(-;-)
Reference	Rs193922422(TGTT;TGTT)
Significance	Probable-Pathogenic
Disease	Familial hypocalciuric hypercalcemia
Variation	info
Gene	CASR
CLNDBN	Familial hypocalciuric hypercalcemia
Reversed	0
HGVS	NC_000003.11:g.121994793_121994796delGTTT
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029429.1,