Dataset of rare regulatory intronic variants

Question

[Emily]

Hey everyone! Would anyone be able to point me to a resource that lists known rare intronic variants? Ideally, ones that have been implicated in regulating gene expression for autoimmune diseases. Thank you in advance!

Answer 1

[Jeremy Leipzig]

https://www.ncbi.nlm.nih.gov/clinvar/?term=autoimmune

you will have to filter for introns on your end

if you download the VCF that should have MAF so you can filter for rare variants