Tuesday, November 14, 2017

Uncommon to Rare Mutations in Chromosome 1

I made my first pass through the raw data for Chromosome 1 and found that I possess some uncommon to rare mutations.  MAF is the minor allele frequency.  So far I found the following:

rs3766400: MAF = 0.008, splice donor variant 
rs11465205: MAF = 0.0054, intron variant, missense
rs56043070: MAF = 0.0389, intron variant, splice donor variant 
rs4762: MAF = 0.1016, missense

There does not seem to be any information with regards to any medical conditions associated with the above mutations, except for rs4762.  Rs4762 is associated with a higher risk of preeclampsia, but I'm glad to say that I did not experience any complications with my first pregnancy.

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