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13:48939088 C / T

Warning! This variant is only covered in 16523 individuals (adjusted allele number = 33046).
This means that the site is covered in fewer than 80% of the individuals in ExAC, which may indicate a low-quality site.

Filter Status
Allele Frequency
Filtering AF
0.004434 (South Asian)
Allele Count
91 / 33046
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Note: Plot may include low-quality genotypes that were excluded from allele counts in the table above

Note: These are site-level quality metrics: they may be unpredictable for multi-allelic sites.


This variant falls on 3 transcripts in 1 genes:

Note: This list may not include additional transcripts in the same gene that the variant does not overlap.
Population Frequencies
Population Allele Count Allele Number Number of Homozygotes Allele Frequency
European (Non-Finnish) 31 15014 0 0.002065
East Asian 0 1672 0 0
Other 1 328 0 0.003049
African 0 3162 0 0
Latino 8 2614 0 0.00306
South Asian 51 8986 0 0.005675
European (Finnish) 0 1270 0 0
Total 91 33046 0 0.002754

Read Data

This interactive IGV.js visualization shows reads that went into calling this variant.
Note: These are reassembled reads produced by GATK HaplotypeCaller --bamOutput so they accurately represent what HaplotypeCaller was seeing when it called this variant.