rs28934605

Orientation

minus

Stabilized

minus

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

Make rs28934605(A;A)

Make rs28934605(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

57766019

Gene

CYP27B1

is a	snp
is	mentioned by
dbSNP	rs28934605
dbSNP (classic)	rs28934605
ClinGen	rs28934605
ebi	rs28934605
HLI	rs28934605
Exac	rs28934605
Gnomad	rs28934605
Varsome	rs28934605
LitVar	rs28934605
Map	rs28934605
PheGenI	rs28934605
Biobank	rs28934605
1000 genomes	rs28934605
hgdp	rs28934605
ensembl	rs28934605
geneview	rs28934605
scholar	rs28934605
google	rs28934605
pharmgkb	rs28934605
gwascentral	rs28934605
openSNP	rs28934605
23andMe	rs28934605
SNPshot	rs28934605
SNPdbe	rs28934605
MSV3d	rs28934605
GWAS Ctlg	rs28934605

Max Magnitude

0

OMIM	609506
Desc	VITAMIN D-DEPENDENT RICKETS, TYPE I
Variant	0002
Related	also

ClinVar
Risk	rs28934605(A;A)
Alt	rs28934605(A;A)
Reference	Rs28934605(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.58159802C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001726.2,