rs121909799

Orientation

minus

Stabilized

minus

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

Make rs121909799(G;G)

Make rs121909799(G;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

47846418

Gene

VDR

is a	snp
is	mentioned by
dbSNP	rs121909799
dbSNP (classic)	rs121909799
ClinGen	rs121909799
ebi	rs121909799
HLI	rs121909799
Exac	rs121909799
Gnomad	rs121909799
Varsome	rs121909799
LitVar	rs121909799
Map	rs121909799
PheGenI	rs121909799
Biobank	rs121909799
1000 genomes	rs121909799
hgdp	rs121909799
ensembl	rs121909799
geneview	rs121909799
scholar	rs121909799
google	rs121909799
pharmgkb	rs121909799
gwascentral	rs121909799
openSNP	rs121909799
23andMe	rs121909799
SNPshot	rs121909799
SNPdbe	rs121909799
MSV3d	rs121909799
GWAS Ctlg	rs121909799

Max Magnitude

0

OMIM	601769
Desc
Variant	0010
Related	also

ClinVar
Risk	rs121909799(G;G)
Alt	rs121909799(G;G)
Reference	Rs121909799(T;T)
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.48240201A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008196.5,