The Duffy antigen gene (DARC) mutation and GATA1 transcription factor binding site explain how a single T-46C promoter variant causes the Duffy-negative blood type and natural resistance to Plasmodium vivax malaria.

Paper discussed in the video:

Disruption of a GATA motif in the Duffy gene promoter abolishes erythroid gene expression in Duffy–negative individuals

https://www.nature.com/articles/ng0695-224

Tools I use to make these type of videos:

https://e2g.stanford.edu/

Rs12936231, one tiny DNA switch on chromosome 17 raises your risk of asthma, type 1 diabetes, and 3 other autoimmune diseases at once. We trace the real biobank data live and reveal how a weakened CTCF boundary explains it all.

Paper discussed in the video:

Allele-Specific Chromatin Remodeling in the ZPBP2/GSDMB/ORMDL3 Locus Associated with the Risk of Asthma and Autoimmune Disease

https://doi.org/10.1016/j.ajhg.2009.08.007

Tools I use to make these type of videos:

https://platform.opentargets.org/

https://e2g.stanford.edu/

https://github.com/statgen/pheweb

https://smart.embl.de/smart/change_mode.cgi

A single DNA letter (rs55705857) makes Finns 6x more likely to get brain cancer. We trace it live from FinnGen PheWAS to AlphaFold to reveal how it hijacks the MYC oncogene.

Paper discussed in the video:

A noncoding single-nucleotide polymorphism at 8q24 drives IDH1-mutant glioma formation https://www.science.org/doi/full/10.1126/science.abj2890

Tools I use to make these type of videos:

https://platform.opentargets.org/

https://e2g.stanford.edu/

https://github.com/statgen/pheweb