rs121909800

Orientation

minus

Stabilized

minus

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

Make rs121909800(C;T)

Make rs121909800(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

47844859

Gene

VDR

is a	snp
is	mentioned by
dbSNP	rs121909800
dbSNP (classic)	rs121909800
ClinGen	rs121909800
ebi	rs121909800
HLI	rs121909800
Exac	rs121909800
Gnomad	rs121909800
Varsome	rs121909800
LitVar	rs121909800
Map	rs121909800
PheGenI	rs121909800
Biobank	rs121909800
1000 genomes	rs121909800
hgdp	rs121909800
ensembl	rs121909800
geneview	rs121909800
scholar	rs121909800
google	rs121909800
pharmgkb	rs121909800
gwascentral	rs121909800
openSNP	rs121909800
23andMe	rs121909800
SNPshot	rs121909800
SNPdbe	rs121909800
MSV3d	rs121909800
GWAS Ctlg	rs121909800

Max Magnitude

0

OMIM	601769
Desc
Variant	0011
Related	also

ClinVar
Risk	rs121909800(A;A) rs121909800(T;T)
Alt	rs121909800(A;A) rs121909800(T;T)
Reference	Rs121909800(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.48238642G>A; NC_000012.11:g.48238642G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008197.3, RCV000251590.1,