How can I view the information in an alternative allele?
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9 months ago
iarmir ▴ 10

I have an annotated file in annovar, converted automaticly by annovar to txt. I have highlighted the information of interest by rs3730025 and for each rs3730025 I have highlighted rs4343 (G>A) in single file for all genomes. I need to understand where rs4343 corresponds to I/I ACE genotype (A; A), I/D ACE genotype (I;D) , D/D genotype (G;G) (info from SNPedia). The information in the annotated files is recorded as hom and het. Not every rs3730025 has information on rs4343. Do I understand correctly?

rs4343

allele 1 G>A
allele 2 G>A     homo I/I ACE genotype

allele 1 G>A
allele 2 G>G     het I/D ACE genotype

allele 1 G=G
allele 2 G=G     no info, not found, because it was a VCF file?
vcftools bcftools VCF annovar • 412 views
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it is good etiquette IMO to link to your cross postings, as you are trying to gather answers from a large community https://www.reddit.com/r/bioinformatics/comments/1adsef5/how_can_i_view_the_information_in_an_alternative/

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Okay, thanks

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