[ensembl-dev] Human MAF numbers

Wolf Beat Beat.Wolf at hefr.ch
Mon Jan 29 16:16:22 GMT 2018


i have a question that i sadly could not find an answer in the documentation (but its likely somewhere, i just can't find it).

For human variants there is a MAF number displayed on the website. It is usually written in a tooltip where this information comes from. But, if there are multiple MAF sources, how is the MAF choosen?

I guess this question also applies to the VEP rest service, which sometimes (not always!) returns a "minor_allele_freq" information. From what i understand, thats the same as the one displayed on the website, but again, how is it calculated?

I know that VEP also provides me with gnomad_maf etc. But that "Global" MAF Number is calculated how exactly?

I'm sure this is documented somewhere, but i must have choosen the wrong keywords. Thank you for pointing me towards the correct information!

Kind regards

Beat Wolf

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