The VDR gene homepage

General information
Gene symbol VDR
Gene name vitamin D (1,25- dihydroxyvitamin D3) receptor
Chromosome 12
Chromosomal band q12-q14
Imprinted Unknown
Genomic reference NG_008731.1
Transcript reference NM_000376.2
Associated with diseases VDDR-2A, osteoporosis
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 25
Unique public DNA variants reported 17
Individuals with public variants 246
Hidden variants 0
Date created September 13, 2012
Date last updated February 08, 2021
Version VDR:210208

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 12679
OMIM - Gene 601769
OMIM - Diseases VDDR-2A (vitamin D-dependent rickets, type 2A (VDDR-2A))
osteoporosis
HGMD VDR
GeneCards VDR
Orphanet VDR


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000466 12 transcript variant 1 NM_000376.2 NP_000367.1 25


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2012-2021. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.