rs121909791

Orientation

minus

Stabilized

minus

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

Make rs121909791(A;A)

Make rs121909791(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

47865106

Gene

VDR

is a	snp
is	mentioned by
dbSNP	rs121909791
dbSNP (classic)	rs121909791
ClinGen	rs121909791
ebi	rs121909791
HLI	rs121909791
Exac	rs121909791
Gnomad	rs121909791
Varsome	rs121909791
LitVar	rs121909791
Map	rs121909791
PheGenI	rs121909791
Biobank	rs121909791
1000 genomes	rs121909791
hgdp	rs121909791
ensembl	rs121909791
geneview	rs121909791
scholar	rs121909791
google	rs121909791
pharmgkb	rs121909791
gwascentral	rs121909791
openSNP	rs121909791
23andMe	rs121909791
SNPshot	rs121909791
SNPdbe	rs121909791
MSV3d	rs121909791
GWAS Ctlg	rs121909791

Max Magnitude

0

OMIM	601769
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121909791(A;A)
Alt	rs121909791(A;A)
Reference	Rs121909791(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.48258889C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008187.3,