rs121909790

Orientation

minus

Stabilized

minus

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

Make rs121909790(A;A)

Make rs121909790(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

47879016

Gene

VDR

is a	snp
is	mentioned by
dbSNP	rs121909790
dbSNP (classic)	rs121909790
ClinGen	rs121909790
ebi	rs121909790
HLI	rs121909790
Exac	rs121909790
Gnomad	rs121909790
Varsome	rs121909790
LitVar	rs121909790
Map	rs121909790
PheGenI	rs121909790
Biobank	rs121909790
1000 genomes	rs121909790
hgdp	rs121909790
ensembl	rs121909790
geneview	rs121909790
scholar	rs121909790
google	rs121909790
pharmgkb	rs121909790
gwascentral	rs121909790
openSNP	rs121909790
23andMe	rs121909790
SNPshot	rs121909790
SNPdbe	rs121909790
MSV3d	rs121909790
GWAS Ctlg	rs121909790

Max Magnitude

0

OMIM	601769
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121909790(A;A) rs121909790(C;C)
Alt	rs121909790(A;A) rs121909790(C;C)
Reference	Rs121909790(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.48272799C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008186.4,