rs121909798

Orientation

minus

Stabilized

minus

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

Make rs121909798(C;G)

Make rs121909798(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

47846444

Gene

VDR

is a	snp
is	mentioned by
dbSNP	rs121909798
dbSNP (classic)	rs121909798
ClinGen	rs121909798
ebi	rs121909798
HLI	rs121909798
Exac	rs121909798
Gnomad	rs121909798
Varsome	rs121909798
LitVar	rs121909798
Map	rs121909798
PheGenI	rs121909798
Biobank	rs121909798
1000 genomes	rs121909798
hgdp	rs121909798
ensembl	rs121909798
geneview	rs121909798
scholar	rs121909798
google	rs121909798
pharmgkb	rs121909798
gwascentral	rs121909798
openSNP	rs121909798
23andMe	rs121909798
SNPshot	rs121909798
SNPdbe	rs121909798
MSV3d	rs121909798
GWAS Ctlg	rs121909798

Max Magnitude

0

OMIM	601769
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121909798(G;G)
Alt	rs121909798(G;G)
Reference	Rs121909798(C;C)
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.48240227G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008195.3,