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

2:48982622 C / G

Warning! This variant is only covered in 7003 individuals (adjusted allele number = 14006).
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
0.3011 (East Asian)
Allele Count
1650 / 14006
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 8 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) 835 5148 56 0.1622
East Asian 167 486 26 0.3436
Other 18 138 3 0.1304
African 139 1326 11 0.1048
Latino 83 320 15 0.2594
South Asian 399 6556 17 0.06086
European (Finnish) 9 32 1 0.2812
Total 1650 14006 129 0.1178

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.