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

17:56283519 C / T


Filter Status
PASS
dbSNP
rs199910690
Allele Frequency
0.0002917
Filtering AF
0.002941 (East Asian)
Allele Count
34 / 116556
UCSC
17-56283519-C-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.

Annotations

This variant falls on 13 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) 1 64380 0 1.553e-05
East Asian 33 8210 0 0.004019
Other 0 846 0 0
African 0 9394 0 0
Latino 0 11284 0 0
South Asian 0 16388 0 0
European (Finnish) 0 6054 0 0
Total 34 116556 0 0.0002917

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.