rs121909794

Orientation

minus

Stabilized

minus

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

Make rs121909794(A;A)

Make rs121909794(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

47865175

Gene

VDR

is a	snp
is	mentioned by
dbSNP	rs121909794
dbSNP (classic)	rs121909794
ClinGen	rs121909794
ebi	rs121909794
HLI	rs121909794
Exac	rs121909794
Gnomad	rs121909794
Varsome	rs121909794
LitVar	rs121909794
Map	rs121909794
PheGenI	rs121909794
Biobank	rs121909794
1000 genomes	rs121909794
hgdp	rs121909794
ensembl	rs121909794
geneview	rs121909794
scholar	rs121909794
google	rs121909794
pharmgkb	rs121909794
gwascentral	rs121909794
openSNP	rs121909794
23andMe	rs121909794
SNPshot	rs121909794
SNPdbe	rs121909794
MSV3d	rs121909794
GWAS Ctlg	rs121909794

Max Magnitude

0

OMIM	601769
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121909794(A;A)
Alt	rs121909794(A;A)
Reference	Rs121909794(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.48258958C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008191.3,