rs6068812

Orientation

plus

Stabilized

plus

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

Make rs6068812(A;G)

Make rs6068812(G;G)

Reference

GRCh38 38.1/142

Chromosome

20

Position

54158096

Gene

CYP24A1

is a	snp
is	mentioned by
dbSNP	rs6068812
dbSNP (classic)	rs6068812
ClinGen	rs6068812
ebi	rs6068812
HLI	rs6068812
Exac	rs6068812
Gnomad	rs6068812
Varsome	rs6068812
LitVar	rs6068812
Map	rs6068812
PheGenI	rs6068812
Biobank	rs6068812
1000 genomes	rs6068812
hgdp	rs6068812
ensembl	rs6068812
geneview	rs6068812
scholar	rs6068812
google	rs6068812
pharmgkb	rs6068812
gwascentral	rs6068812
openSNP	rs6068812
23andMe	rs6068812
SNPshot	rs6068812
SNPdbe	rs6068812
MSV3d	rs6068812
GWAS Ctlg	rs6068812

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

ClinVar
Risk	rs6068812(G;G)
Alt	rs6068812(G;G)
Reference	Rs6068812(A;A)
Significance	Pathogenic
Disease	Idiopathic hypercalcemia of infancy
Variation	info
Gene	CYP24A1
CLNDBN	Idiopathic hypercalcemia of infancy
Reversed	0
HGVS	NC_000020.10:g.52774635A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000033210.25,