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

12:6976688 A / G

Note: This variant is found in phase with 12-6976687-G-A in 1 individuals.

Warning! This variant is only covered in 22441 individuals (adjusted allele number = 44882).
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
0.3637 (East Asian)
Allele Count
4969 / 44882
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 17 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) 246 20202 1 0.01218
East Asian 1709 4514 225 0.3786
Other 20 334 0 0.05988
African 1693 4662 198 0.3631
Latino 1149 3740 75 0.3072
South Asian 148 9994 1 0.01481
European (Finnish) 4 1436 0 0.002786
Total 4969 44882 500 0.1107

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.