rs121909796

Orientation

minus

Stabilized

minus

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

Make rs121909796(G;T)

Make rs121909796(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

47846743

Gene

VDR

is a	snp
is	mentioned by
dbSNP	rs121909796
dbSNP (classic)	rs121909796
ClinGen	rs121909796
ebi	rs121909796
HLI	rs121909796
Exac	rs121909796
Gnomad	rs121909796
Varsome	rs121909796
LitVar	rs121909796
Map	rs121909796
PheGenI	rs121909796
Biobank	rs121909796
1000 genomes	rs121909796
hgdp	rs121909796
ensembl	rs121909796
geneview	rs121909796
scholar	rs121909796
google	rs121909796
pharmgkb	rs121909796
gwascentral	rs121909796
openSNP	rs121909796
23andMe	rs121909796
SNPshot	rs121909796
SNPdbe	rs121909796
MSV3d	rs121909796
GWAS Ctlg	rs121909796

Max Magnitude

0

OMIM	601769
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121909796(T;T)
Alt	rs121909796(T;T)
Reference	Rs121909796(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.48240526C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008193.3,