Dataset of rare regulatory intronic variants

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!

rare-variants snp

• 896 views • link

updated 3.4 years ago by Jeremy Leipzig

• written 3.4 years ago by Emily •

1 answer

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

• 0 views • link

written 3.4 years ago by Jeremy Leipzig

More posts like this

vcf multisample
written 11 months ago by Donald •

Hi everyone! I'm searching for publicly available VCF files with genotyped data from more than 10 samples, ideally linked to specific diseases or phenotypes. Does …
Role of the 'Known resource' in VQSR
written 5.3 years ago by SBM_Han •

Hi, I was looking into the VQSR process, and could not get the role of the 'known resource'. The fifth content of the GATK VQSR …
Enrichr Diseases/Drugs Terms Explanation Help
written 5.5 years ago by Rongxin •

Hi all, I have a cluster of genes that I am interested in (The number of genes in this set is about 300). Then,I would …
Rare variants linkage disequilibrium
written 5.8 years ago by reds.nik •

Hi everyone, I found a burden of rare variants within an haplotype block associated with a trait of interest. Given that the associated region is …
Prevalence of genetic disorders
written 7.6 years ago by Larson •

Hi there, Can anyone point to me some data on the global prevalence of MOST genetic disorders (or at least 100 most frequent)? In particular, …
Rare variants imputation
written 7.8 years ago by reds.nik •

Hi, I am currently working on rare variants association studies from whole genome seq data. I want to replicate my results in an array-genotyped cohort …
Gene Id to Ensembl ID Conversion with LONG list
written 8.2 years ago by virlana.shchuka •

Hello everyone, Is there an available resource that converts long lists of gene names to Ensembl IDs? I CANNOT use Biomart, because the advised limit …
List or database of regulatory SNPs
written 11.1 years ago by satpreetsingh •

I am looking for lists/databases of known (primarily homo-sapien) regulatory SNPs ("causal SNPs") One resource that I have already found that used to (now inactive) …
How to find appropriate control regions for gene burden tests on T-cell enhancer regions
written 11.1 years ago by LauferVA

<p>Hello,</p> <p>I study autoimmune disease. Recently, several groups have reported that T-cell enhancer regions are particularly enriched for candidate causal variants of Rheumatoid Arthritis and …
small case-control exome sequencing study
written 12.1 years ago by User6891

Hi everyone, I have exome data of 25 unrelated patients and 40 unrelated control samples. I'm looking for rare variants associated with the disease. I've …