Finding homozygotes with SNP of interest
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4.0 years ago

Hello,

I am a very new person in genetic variation analysis, so my question may be very simple.

I am interested in the SNP rs764867354 in SidT2 gene that leads to loss of a start codon. (http://www.ensembl.org/Homo_sapiens/Variation/Explore?db=core;g=ENSG00000149577;r=11:117178733-117197445;v=rs764867354;vdb=variation;vf=130560261). I want to know if homozygotes for this SNP have been ever found among the sequenced genomes. What should I do to find this out?

Thanks!

SNP Ensembl homozygote • 797 views
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3
Entering edit mode
4.0 years ago

Your best resources for that would be ExAC and gnomAD.

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1
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Thank you, I have found exactly what I need.

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1
Entering edit mode
4.0 years ago

Go to the population genetics page which will display genotype frequencies if these are available. If they're not, then click through to the original submitter and see if they have more information.

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