This is a test version of Biostars. For the public version, visit https://www.biostars.org.
find alternative allele frequency from 1000 Genomes

I have SNPs position and rsID for 500 SNPs, I would like to find alternative allele frequency for them based on 1000 Genomes? would you please help me.

1000 genomes ensembl ucsc ncbi
• 3,696 views • link
written by star star

1 answer

You could do that by using Biomart from Ensembl

  1. Go to http://www.ensembl.org/biomart/martview
  2. Database = Ensembl variation
  3. Homo Sapiens Short Variants
  4. Filters: General Variant Filters: Filter by Variant Name
  5. Attributes: VARIANT ASSOCIATED INFORMATION: 1000 Genomes global Minor Allele Frequency (all individuals)
• 1 views • link
written by WouterDeCoster WouterDeCoster

Thanks a lot. I know that but I want to find Alternative allele frequency.

• 1 views • link
written by star star

Yes, so the minor allele may not be the alternative allele such as C in rs123. C is the minor allele and the reference, not the alternative allele. If you add the 'ancestral allele' and 'variant alleles' in Attributes, you can find out which one is the alternative, and if the latter is not the minor, you can deduct the MAF from 1 (or 100%) to get the frequency for the alternative allele (AAF, alternative allele frequency). You could also try the Ensembl REST API using the POST variation endpoint. Finally this FAQ may be useful too.

• 1 views • link
written by Denise CS Denise CS

Log in to answer this question.

More posts like this