The ExAC browser will be decommissioned in December. ExAC data is available in the gnomAD browser.

2:234581346 G / A


Filter Status
PASS
dbSNP
rs58597806
Allele Frequency
0.0001154
Filtering AF
0.000978 (East Asian)
Allele Count
14 / 121282
UCSC
2-234581346-G-A
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 5 transcripts in 3 genes:

missense
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 66678 0 0
East Asian 14 8654 0 0.001618
Other 0 906 0 0
African 0 10342 0 0
Latino 0 11576 0 0
South Asian 0 16512 0 0
European (Finnish) 0 6614 0 0
Total 14 121282 0 0.0001154

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.