rs28934607

Orientation

minus

Stabilized

minus

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

Make rs28934607(C;T)

Make rs28934607(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

57764169

Gene

CYP27B1

is a	snp
is	mentioned by
dbSNP	rs28934607
dbSNP (classic)	rs28934607
ClinGen	rs28934607
ebi	rs28934607
HLI	rs28934607
Exac	rs28934607
Gnomad	rs28934607
Varsome	rs28934607
LitVar	rs28934607
Map	rs28934607
PheGenI	rs28934607
Biobank	rs28934607
1000 genomes	rs28934607
hgdp	rs28934607
ensembl	rs28934607
geneview	rs28934607
scholar	rs28934607
google	rs28934607
pharmgkb	rs28934607
gwascentral	rs28934607
openSNP	rs28934607
23andMe	rs28934607
SNPshot	rs28934607
SNPdbe	rs28934607
MSV3d	rs28934607
GWAS Ctlg	rs28934607

Max Magnitude

0

OMIM	609506
Desc	VITAMIN D-DEPENDENT RICKETS, TYPE I
Variant	0004
Related	also

ClinVar
Risk	rs28934607(T;T)
Alt	rs28934607(T;T)
Reference	Rs28934607(C;C)
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.58157952G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001728.3,