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18:55862847 G / A


Warning! This variant is only covered in 43871 individuals (adjusted allele number = 87742).
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
rs1008899
Allele Frequency
0.3166
Filtering AF
0.4734 (East Asian)
Allele Count
27775 / 87742
UCSC
18-55862847-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 19 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) 14270 47540 1804 0.3002
East Asian 3295 6762 724 0.4873
Other 233 670 34 0.3478
African 696 5550 40 0.1254
Latino 3428 8714 521 0.3934
South Asian 4528 13400 732 0.3379
European (Finnish) 1325 5106 146 0.2595
Total 27775 87742 4001 0.3166

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.