Hello all together,
I have a question that explicitly refers to a SNP that is calculated to have a damaging/deletious effect.
Now I ask myself whether this effect should also be seen in the IGV? It is exactly this SNP (https://varsome.com/variant/hg38/chr2-165315571-C-T?).
Can anyone give me tips on how to track down the SNP and tell me more precisely whether the calculations are correct?
I have the sample in front of me, a screenshot is attached.
And if I should be completely on the wrong track I would also like to know why. I want to learn
I thank you in advance to everyone who gives me an answer here.
