<p>This dbsnp github repo seems to offer that information.</p>

<p><a href="https://github.com/ncbi/dbsnp/tree/master/Build%20Announcements/151" rel="nofollow noreferrer">https://github.com/ncbi/dbsnp/tree/master/Build%20Announcements/151</a></p>

CC BY-SA 4.0
2020-03-07T01:51:45.223Z
2020-03-07T01:51:45.223Z
KT8
<p>I'd like to know how common certain mutation <em>types</em> are in public data sets like the 1000 Genomes, ExAC, and ESP6500. Specifically, I'd like to know the distribution of stop-gains, stop-losses, frameshift, and other mutation types. For example, what is the median number of stop-gains observed across individuals in the ExAC population? I'd like to have the full distribution, but median values would work.</p>

<p>To be clear, I am <em>not</em> looking for allele frequencies.</p>

<p>I didn't find this kind of summary data when I looked at the respective websites. Is there a good source for these summary data?</p>

CC BY-SA 3.0
2017-08-13T20:01:49.583Z
Are you looking for statistics on the most severe variant at each genomic location? It is possible for many different transcript variants to map to the same location, which can influence the results that come out of this.
gringer
CC BY-SA 3.0
2017-08-14T08:04:28.590Z
Does Figure 4A help? https://www.nature.com/nature/journal/v491/n7422/fig_tab/nature11632_F4.html
Chris_Rands
CC BY-SA 3.0
2017-08-14T09:47:48.927Z
You might be able to calculate yourself the stats you want if you download the data.
llrs
CC BY-SA 3.0
2017-10-31T20:36:11.837Z
For some types of variant annotations, you can pull all the SNPs from dbSNP as they do in this paper.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3500177/
eric_kernfeld
CC BY-SA 3.0
2018-02-15T23:46:59.813Z
An important clarifying question: Do you only care about this information in the context of humans?
conchoecia
<public-databases>
Where can I find summary data for how common certain mutation *types* are?
# Where can I find summary data for how common certain mutation *types* are?

(Asked by: username_0 on 2017-08-12)

I'd like to know how common certain mutation *types* are in public data sets like the 1000 Genomes, ExAC, and ESP6500. Specifically, I'd like to know the distribution of stop-gains, stop-losses, frameshift, and other mutation types. For example, what is the median number of stop-gains observed across individuals in the ExAC population? I'd like to have the full distribution, but median values would work.

To be clear, I am *not* looking for allele frequencies.

I didn't find this kind of summary data when I looked at the respective websites. Is there a good source for these summary data?

**Tags:** public-databases
> **Comments:**
> **username_1**: Are you looking for statistics on the most severe variant at each genomic location? It is possible for many different transcript variants to map to the same location, which can influence the results that come out of this.  
> **username_2**: Does Figure 4A help? https://www.nature.com/nature/journal/v491/n7422/fig_tab/nature11632_F4.html  
> **username_3**: You might be able to calculate yourself the stats you want if you download the data.  
> **username_4**: For some types of variant annotations, you can pull all the SNPs from dbSNP as they do in this paper.  https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3500177/  
> **username_5**: An important clarifying question: Do you only care about this information in the context of humans?  

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## 1 answers

### Answer by username_6 on 2020-03-07. Score: 1

This dbsnp github repo seems to offer that information.

<https://github.com/ncbi/dbsnp/tree/master/Build%20Announcements/151>


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