rs267607169

Orientation

minus

Stabilized

minus

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

Make rs267607169(A;A)

Make rs267607169(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

47844994

Gene

VDR

is a	snp
is	mentioned by
dbSNP	rs267607169
dbSNP (classic)	rs267607169
ClinGen	rs267607169
ebi	rs267607169
HLI	rs267607169
Exac	rs267607169
Gnomad	rs267607169
Varsome	rs267607169
LitVar	rs267607169
Map	rs267607169
PheGenI	rs267607169
Biobank	rs267607169
1000 genomes	rs267607169
hgdp	rs267607169
ensembl	rs267607169
geneview	rs267607169
scholar	rs267607169
google	rs267607169
pharmgkb	rs267607169
gwascentral	rs267607169
openSNP	rs267607169
23andMe	rs267607169
SNPshot	rs267607169
SNPdbe	rs267607169
MSV3d	rs267607169
GWAS Ctlg	rs267607169

Max Magnitude

0

ClinVar
Risk	rs267607169(A;A)
Alt	rs267607169(A;A)
Reference	Rs267607169(G;G)
Significance	Pathogenic
Disease	Vitamin D-dependent rickets
Variation	info
Gene	VDR
CLNDBN	Vitamin D-dependent rickets, type 2
Reversed	1
HGVS	NC_000012.11:g.48238777C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008200.4,