rs121909792

Orientation

minus

Stabilized

minus

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

Make rs121909792(A;A)

Make rs121909792(A;C)

Reference

GRCh38 38.1/141

Chromosome

12

Position

47846679

Gene

VDR

is a	snp
is	mentioned by
dbSNP	rs121909792
dbSNP (classic)	rs121909792
ClinGen	rs121909792
ebi	rs121909792
HLI	rs121909792
Exac	rs121909792
Gnomad	rs121909792
Varsome	rs121909792
LitVar	rs121909792
Map	rs121909792
PheGenI	rs121909792
Biobank	rs121909792
1000 genomes	rs121909792
hgdp	rs121909792
ensembl	rs121909792
geneview	rs121909792
scholar	rs121909792
google	rs121909792
pharmgkb	rs121909792
gwascentral	rs121909792
openSNP	rs121909792
23andMe	rs121909792
SNPshot	rs121909792
SNPdbe	rs121909792
MSV3d	rs121909792
GWAS Ctlg	rs121909792

Max Magnitude

0

OMIM	601769
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121909792(A;A)
Alt	rs121909792(A;A)
Reference	Rs121909792(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.48240462G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008188.3,