% Mutated genes with at least 1 allele classified as benign: 95.72%
% Mutated genes with at least 1 allele classified as ambiguous: 2.71%
% Mutated genes with at least 1 allele classified as pathogenic: 1.57%
% Mutated genes with 2 alleles classified as benign: 38.37%
% Mutated genes with 2 alleles classified as ambiguous: 0.54%
% Mutated genes with 2 alleles classified as pathogenic: 0.39%
The first one I checked freaked me out a bit (I have the AA mutation):
MTHFR C677T (Rs1801133). This mutation (the A allele) is associated with reduced enzyme activity, elevated total homocysteine levels and altered distribution of folate [1]. People with an “A” allele for this mutation present a 35% decrease of the normal enzyme activity and “AA” individuals a 70% decrease...
Frankly once you go down that rabbit hole you have to make sure that you aren't prone to anxiety. I wrote a tool (not sure if open-sourced) that just crosses the output of 23andme with dbSNP and the number of possible diseases that came up was impressive.
I did have the SIRT1 mutation associated with a long life so there's that.
My understanding is that lot of 23andme data is driven by self-reported data. I wonder how much this would change if it got vetted by a medical professional.
Also kind of curious which percentage of the pathogenic mutated genes are recessive vs dominant.
% Mutated genes: 1.97%
% Mutated genes that are benign: 93.98%
% Mutated genes that are ambiguous: 3.94%
% Mutated genes that are pathogenic: 2.08%
Does not really mean anything but my tired brain thought it was fun.