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19:47259626 T / A

Warning! This variant is only covered in 8052 individuals (adjusted allele number = 16104).
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 (None)
Allele Count
1 / 16104
Click to search for variant in Clinvar
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 24 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) 1 6334 0 0.0001579
East Asian 0 880 0 0
Other 0 146 0 0
African 0 760 0 0
Latino 0 276 0 0
South Asian 0 7582 0 0
European (Finnish) 0 126 0 0
Total 1 16104 0 6.21e-05

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.