Question: Why is a SNP in 23andMe data if the genotype is homozygous reference?
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gravatar for mprza
4 months ago by
mprza0
mprza0 wrote:

Am a beginner to genomics etc, so apologies for a trivial/strange question. When looking at a 23andMe dataset, the first variant listed was the following:

rsid    chromosome  position    genotype
rs548049170 1   69869   TT

However, when I create a VCF file from this dataset, I see the following:

#CHROM  POS ID  REF ALT QUAL    FILTER  INFO    FORMAT  SAMPLE
1   69869   rs548049170 T   N   .   .   .   GT  0/0

Why is it considered a variant when the genotype (TT) is the same as the reference allele? Surely this isn't a variant then, so why is it included in the 23andMe data? Furthermore, everywhere that a situation like this occurs in the VCF file, the ALT column is set to N. What does this mean?

Thanks!

genomics genotype 23andme • 200 views
ADD COMMENTlink modified 4 months ago by JC12k • written 4 months ago by mprza0
0
gravatar for JC
4 months ago by
JC12k
Mexico
JC12k wrote:

Because you could need them for other analysis, linkage, gwas, etc

ADD COMMENTlink written 4 months ago by JC12k
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