rs387906258

Orientation

minus

Stabilized

minus

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

Make rs387906258(-;-)

Make rs387906258(-;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

57765171

Gene

CYP27B1

is a	snp
is	mentioned by
dbSNP	rs387906258
dbSNP (classic)	rs387906258
ClinGen	rs387906258
ebi	rs387906258
HLI	rs387906258
Exac	rs387906258
Gnomad	rs387906258
Varsome	rs387906258
LitVar	rs387906258
Map	rs387906258
PheGenI	rs387906258
Biobank	rs387906258
1000 genomes	rs387906258
hgdp	rs387906258
ensembl	rs387906258
geneview	rs387906258
scholar	rs387906258
google	rs387906258
pharmgkb	rs387906258
gwascentral	rs387906258
openSNP	rs387906258
23andMe	rs387906258
SNPshot	rs387906258
SNPdbe	rs387906258
MSV3d	rs387906258
GWAS Ctlg	rs387906258

Max Magnitude

0

ClinVar
Risk	rs387906258(-;-)
Alt	rs387906258(-;-)
Reference	Rs387906258(G;G)
Significance	Pathogenic
Disease	Vitamin D-dependent rickets
Variation	info
Gene	CYP27B1
CLNDBN	Vitamin D-dependent rickets, type 1
Reversed	1
HGVS	NC_000012.11:g.58158954delC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001729.3,