rs121909793

Orientation

minus

Stabilized

minus

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

Make rs121909793(A;A)

Make rs121909793(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

47865085

Gene

VDR

is a	snp
is	mentioned by
dbSNP	rs121909793
dbSNP (classic)	rs121909793
ClinGen	rs121909793
ebi	rs121909793
HLI	rs121909793
Exac	rs121909793
Gnomad	rs121909793
Varsome	rs121909793
LitVar	rs121909793
Map	rs121909793
PheGenI	rs121909793
Biobank	rs121909793
1000 genomes	rs121909793
hgdp	rs121909793
ensembl	rs121909793
geneview	rs121909793
scholar	rs121909793
google	rs121909793
pharmgkb	rs121909793
gwascentral	rs121909793
openSNP	rs121909793
23andMe	rs121909793
SNPshot	rs121909793
SNPdbe	rs121909793
MSV3d	rs121909793
GWAS Ctlg	rs121909793

Max Magnitude

0

OMIM	601769
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121909793(A;A)
Alt	rs121909793(A;A)
Reference	Rs121909793(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.48258868C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008190.3,