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8:38001877 G / A


Warning! This variant is only covered in 32604 individuals (adjusted allele number = 65208).
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
rs104894085
Allele Frequency
0.0001687
Filtering AF
0.001372 (East Asian)
Allele Count
11 / 65208
UCSC
8-38001877-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 13 transcripts in 3 genes:

stop gained synonymous
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) 0 36214 0 0
East Asian 11 4494 0 0.002448
Other 0 518 0 0
African 0 5960 0 0
Latino 0 5018 0 0
South Asian 0 10616 0 0
European (Finnish) 0 2388 0 0
Total 11 65208 0 0.0001687

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.