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

18:58039276 C / T


Filter Status
PASS
dbSNP
rs2229616
Allele Frequency
0.01743
Filtering AF
0.02094 (East Asian)
Allele Count
2116 / 121398
UCSC
18-58039276-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 1 transcripts in 1 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) 1300 66734 13 0.01948
East Asian 204 8648 2 0.02359
Other 14 908 2 0.01542
African 143 10406 1 0.01374
Latino 30 11576 0 0.002592
South Asian 357 16512 9 0.02162
European (Finnish) 68 6614 0 0.01028
Total 2116 121398 27 0.01743

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.