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2:48982764 A / T


Warning! This variant is only covered in 5433 individuals (adjusted allele number = 10866).
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
rs4539842
Allele Frequency
9.203e-05
Filtering AF
0 (None)
Allele Count
1 / 10866
UCSC
2-48982764-A-T
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.

Population Frequencies
Population Allele Count Allele Number Number of Homozygotes Allele Frequency
European (Non-Finnish) 1 2870 0 0.0003484
East Asian 0 152 0 0
Other 0 126 0 0
African 0 260 0 0
Latino 0 100 0 0
South Asian 0 7358 0 0
European (Finnish) 0 0 0 NA
Total 1 10866 0 9.203e-05

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.