Hello all,
I have a list of genes and I want to get all of variations in these genes that contribute to a certain disease, their rs IDs and the population based on which the study was carried out.
So far I have been doing this through OMIM: I type the gene name in OMIM, click on the ClinVar in the resulting page and from there I see the rs IDs and if I check the article of the study, then I can find the population of the study. This, however, takes TOO LONG and I have about 150 genes in my list.
Does anyone know any shortcut to this? How can I customize the database and get the information I want? Is there a software for it? Can I request NVBI to do this for me?
Thank you! Much appreciated.
1 answer
You might want to look at the NCBI clinvar download site. There are several tab delimited text files that may be of interest.
•
written
by
Sean Davis
Log in to answer this question.
-
Why do these two variants appear to result in the same amino acid change when annotated by snpeff, …
written by curious
-
Clinvar Mapping
written by Shweta •
-
ClinVar Disease Type Summary
written by benjamin.kellman •
-
Need a fast way to see overlap of gene list with Scoliosis.
written by screadore •
-
List of conditions a set of genes are associated with in OMIM
written by Floydian_slip
-
Calculate the allele frequency of specific sub-population using VEP
written by Abdul Rafay Khan
-
Allele with high population frequency also tagged as pathogenic
written by user31888
-
How does OMIM select the clinically associated variants (SNPs)?
written by nkav2 •
-
What the rs IDs on OMIM are different from the rs IDs in genecards for the same gene?
written by nkav2 •
-
Get The List Of Genes Associated With A Disease
written by toshnam
