rs121909797

Orientation

minus

Stabilized

minus

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

Make rs121909797(A;A)

Make rs121909797(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

47878977

Gene

VDR

is a	snp
is	mentioned by
dbSNP	rs121909797
dbSNP (classic)	rs121909797
ClinGen	rs121909797
ebi	rs121909797
HLI	rs121909797
Exac	rs121909797
Gnomad	rs121909797
Varsome	rs121909797
LitVar	rs121909797
Map	rs121909797
PheGenI	rs121909797
Biobank	rs121909797
1000 genomes	rs121909797
hgdp	rs121909797
ensembl	rs121909797
geneview	rs121909797
scholar	rs121909797
google	rs121909797
pharmgkb	rs121909797
gwascentral	rs121909797
openSNP	rs121909797
23andMe	rs121909797
SNPshot	rs121909797
SNPdbe	rs121909797
MSV3d	rs121909797
GWAS Ctlg	rs121909797

Max Magnitude

0

OMIM	601769
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121909797(A;A) rs121909797(C;C) rs121909797(T;T)
Alt	rs121909797(A;A) rs121909797(C;C) rs121909797(T;T)
Reference	Rs121909797(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.48272760C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008194.4,