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2:48921374 A / G

Note: This variant is found in phase with 2-48921375-T-C in 12 individuals.

Warning! This variant is only covered in 32484 individuals (adjusted allele number = 64968).
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
Not found in dbSNP
Allele Frequency
Filtering AF
0.000713 (South Asian)
Allele Count
13 / 64968
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 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) 0 32868 0 0
East Asian 0 4414 0 0
Other 0 568 0 0
African 0 7434 0 0
Latino 0 4608 0 0
South Asian 13 10770 1 0.001207
European (Finnish) 0 4306 0 0
Total 13 64968 1 0.0002001

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.