Interested in working on the development of this resource? Apply here.

16:88798919 G / T

Warning! This variant is only covered in 8235 individuals (adjusted allele number = 16470).
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
0.001002 (South Asian)
Allele Count
22 / 16470
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 5 transcripts in 2 genes:

missense non coding transcript exon
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) 9 6082 0 0.00148
East Asian 0 442 0 0
Other 0 158 0 0
African 0 1514 0 0
Latino 0 308 0 0
South Asian 13 7672 0 0.001694
European (Finnish) 0 294 0 0
Total 22 16470 0 0.001336

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.