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

6:30710135 A / G

Warning! This variant is only covered in 7474 individuals (adjusted allele number = 14948).
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
0.1619 (African)
Allele Count
1240 / 14948
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 16 transcripts in 3 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) 484 8782 16 0.05511
East Asian 133 918 11 0.1449
Other 9 136 0 0.06618
African 305 1710 20 0.1784
Latino 36 720 0 0.05
South Asian 246 1696 18 0.145
European (Finnish) 27 986 0 0.02738
Total 1240 14948 65 0.08295

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.