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20:44638781 A / G

Warning! This variant is only covered in 5516 individuals (adjusted allele number = 11032).
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
0.5955 (East Asian)
Allele Count
5385 / 11032
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 2 transcripts in 2 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) 1347 3310 261 0.4069
East Asian 171 252 55 0.6786
Other 56 134 13 0.4179
African 312 662 71 0.4713
Latino 53 172 8 0.3081
South Asian 3443 6496 908 0.53
European (Finnish) 3 6 1 0.5
Total 5385 11032 1317 0.4881

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.