rs28934604

Orientation

minus

Stabilized

minus

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

Make rs28934604(A;A)

Make rs28934604(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

57766073

Gene

CYP27B1

is a	snp
is	mentioned by
dbSNP	rs28934604
dbSNP (classic)	rs28934604
ClinGen	rs28934604
ebi	rs28934604
HLI	rs28934604
Exac	rs28934604
Gnomad	rs28934604
Varsome	rs28934604
LitVar	rs28934604
Map	rs28934604
PheGenI	rs28934604
Biobank	rs28934604
1000 genomes	rs28934604
hgdp	rs28934604
ensembl	rs28934604
geneview	rs28934604
scholar	rs28934604
google	rs28934604
pharmgkb	rs28934604
gwascentral	rs28934604
openSNP	rs28934604
23andMe	rs28934604
SNPshot	rs28934604
SNPdbe	rs28934604
MSV3d	rs28934604
GWAS Ctlg	rs28934604

Max Magnitude

0

OMIM	609506
Desc	VITAMIN D-DEPENDENT RICKETS, TYPE I
Variant	0001
Related	also

ClinVar
Risk	rs28934604(A;A)
Alt	rs28934604(A;A)
Reference	Rs28934604(G;G)
Significance	Pathogenic
Disease	Vitamin D-dependent rickets Vitamin D-Dependent Rickets
Variation	info
Gene	CYP27B1
CLNDBN	Vitamin D-dependent rickets, type 1 Vitamin D-Dependent Rickets
Reversed	1
HGVS	NC_000012.11:g.58159856C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001725.2, RCV000401607.1,