Inflammatory Bowel Disease Exomes Browser

Meta-analysis association statistics

This browser presents IBD case-control association results from a meta-analysis of three population cohorts, each of which contains samples and/or data contributed from many collaborative partners. The tallies of samples included in the current meta-analysis are as follows:
  • Ashkenazi Jews (AJ): 2641 IBD (1855 CD, 700 UC) and 3044 are non-IBD
  • Non-Finnish Europeans (NFE): 4970 IBD (2296 CD, 1726 UC) and 2270 are non-IBD
  • Finland (FINN): 696 IBD (210 CD, 418 UC) and 9930 are non-IBD
A full listing of collaborative partners and projects can be viewed here.

Recent News

September 25, 2016

- Public release of IBD Exome Results Browser!

October 4, 2015

- Internal release to consortium now available!

AJ Exome frequency resource

Genetic variant frequency data in this browser are reported from 2641 IBD (1855 CD, 700 UC) and 3044 non-IBD samples of Ashkenazi Jewish (AJ) descent from a collaborative network of exome sequencing studies listed below. Samples were included in this frequency resource after principal components analysis clustering confirmed ancestry. Variants with 20% missingness rate after genotype quality threshold greater than 20 were excluded from the resource.


  • Dermot McGovern
  • Judy H. Cho
  • Ann Pulver
  • Vincent Plagnol
  • Tony Segal
  • Gil Atzmon
  • Dan Turner
  • Ben Glaser
  • Inga Peter
  • T2D-GENES consortium

Finnish Exome frequency resource

Genetic variant frequency data in this browser are reported from 696 IBD (210 CD, 418 UC) and 9930 non-IBD samples. For a more complete browsing of Finnish reference frequency data please visit SISU page.

Terms of use

All data here are released under a Fort Lauderdale Agreement for the benefit of the wider biomedical community for use in the investigation of the genetic causes of IBD and, more generally, medical genetics research. Data and results may not be used in attempts to identify individual study participants. You can freely browse the case-control results; however, we ask that you not publish global (exome-wide) analyses of these data, or analyses of large gene sets, until after an initial Ashkenazi Jewish Inflammatory Bowel Disease paper has been published (estimated to be in Winter 2016). We encourage broad use of the frequency reference data but note that case-control results are provided as general guides and specific results may not have yet been subjected to the data quality, statistical and population genetics review that would normally be required for publication or clinical inference.

If you are uncertain which category your analysis fall into, please email us.

About the Helmsley IBD Sequencing Program

With support from the Helmsley Charitable Trust, we have launched a transformative program of exome sequencing in IBD for which we continue to engage collaborative partners. The overarching aim of the program is to define the full allelic spectrum of protein-altering variation in genes associated to IBD, assess their role in both CD and UC risk, clinical course and response to therapy, and to determine whether loss-of-function variants confer risk or protection in each IBD gene in order to articulate the most opportune therapeutic targets. Recent technical innovations in DNA sequencing and analysis enable exome sequencing to take place at an unprecedented low cost and high accuracy and have facilitated the launch of this program, which aims to evaluate at least 20,000 exomes over the course of the next 2-3 years. To read more about the Helmsley IBD Sequencing program please visit our About page.