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2:31805706 G / C


Warning! This variant is only covered in 38440 individuals (adjusted allele number = 76880).
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
PASS
dbSNP
rs523349
Allele Frequency
0.6999
Filtering AF
0.7404 (African)
Allele Count
53809 / 76880
UCSC
2-31805706-G-C
ClinVar
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.

Annotations

This variant falls on 2 transcripts in 1 genes:

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) 31296 43264 10654 0.7234
East Asian 2627 4868 570 0.5396
Other 406 568 140 0.7148
African 4601 6064 1699 0.7587
Latino 4134 6226 1176 0.664
South Asian 7793 11796 2428 0.6606
European (Finnish) 2952 4094 986 0.7211
Total 53809 76880 17653 0.6999

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.