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8:119964052 G / C

Warning! This variant is only covered in 33301 individuals (adjusted allele number = 66602).
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
0.8555 (African)
Allele Count
40122 / 66602
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 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) 19234 35272 4287 0.5453
East Asian 4187 5452 1539 0.768
Other 300 472 92 0.6356
African 5257 6006 2280 0.8753
Latino 3210 6060 627 0.5297
South Asian 6735 11328 1941 0.5945
European (Finnish) 1199 2012 278 0.5959
Total 40122 66602 11044 0.6024

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.