rs387907322

Orientation

minus

Stabilized

minus

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

Make rs387907322(A;A)

Make rs387907322(A;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

54171644

Gene

CYP24A1

is a	snp
is	mentioned by
dbSNP	rs387907322
dbSNP (classic)	rs387907322
ClinGen	rs387907322
ebi	rs387907322
HLI	rs387907322
Exac	rs387907322
Gnomad	rs387907322
Varsome	rs387907322
LitVar	rs387907322
Map	rs387907322
PheGenI	rs387907322
Biobank	rs387907322
1000 genomes	rs387907322
hgdp	rs387907322
ensembl	rs387907322
geneview	rs387907322
scholar	rs387907322
google	rs387907322
pharmgkb	rs387907322
gwascentral	rs387907322
openSNP	rs387907322
23andMe	rs387907322
SNPshot	rs387907322
SNPdbe	rs387907322
MSV3d	rs387907322
GWAS Ctlg	rs387907322

Max Magnitude

0

ClinVar
Risk	rs387907322(A;A) rs387907322(C;C)
Alt	rs387907322(A;A) rs387907322(C;C)
Reference	Rs387907322(G;G)
Significance	Pathogenic
Disease	Idiopathic hypercalcemia of infancy
Variation	info
Gene	CYP24A1
CLNDBN	Idiopathic hypercalcemia of infancy
Reversed	1
HGVS	NC_000020.10:g.52788183C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000033205.29,