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19:48183771 C / T

Warning! This variant is only covered in 9279 individuals (adjusted allele number = 18558).
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
0.4566 (African)
Allele Count
6727 / 18558
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 3 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) 2850 8052 412 0.3539
East Asian 211 508 33 0.4154
Other 69 180 14 0.3833
African 852 1762 190 0.4835
Latino 168 404 27 0.4158
South Asian 2511 7500 412 0.3348
European (Finnish) 66 152 7 0.4342
Total 6727 18558 1095 0.3625

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.