rs28934606

Orientation

minus

Stabilized

minus

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

Make rs28934606(C;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

57764510

Gene

CYP27B1

is a	snp
is	mentioned by
dbSNP	rs28934606
dbSNP (classic)	rs28934606
ClinGen	rs28934606
ebi	rs28934606
HLI	rs28934606
Exac	rs28934606
Gnomad	rs28934606
Varsome	rs28934606
LitVar	rs28934606
Map	rs28934606
PheGenI	rs28934606
Biobank	rs28934606
1000 genomes	rs28934606
hgdp	rs28934606
ensembl	rs28934606
geneview	rs28934606
scholar	rs28934606
google	rs28934606
pharmgkb	rs28934606
gwascentral	rs28934606
openSNP	rs28934606
23andMe	rs28934606
SNPshot	rs28934606
SNPdbe	rs28934606
MSV3d	rs28934606
GWAS Ctlg	rs28934606

Max Magnitude

0

OMIM	609506
Desc	VITAMIN D-DEPENDENT RICKETS, TYPE I
Variant	0003
Related	also

ClinVar
Risk	rs28934606(A;A) Rs28934606(C;C)
Alt	rs28934606(A;A) Rs28934606(C;C)
Reference	Rs28934606(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.58158293C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001727.2,