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17:43923683 A / G


Filter Status
PASS
dbSNP
rs12185268
Allele Frequency
0.1442
Filtering AF
0.2073 (European (Non-Finnish))
Allele Count
17509 / 121388
UCSC
17-43923683-A-G
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 4 transcripts in 2 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) 14025 66724 1513 0.2102
East Asian 7 8654 0 0.0008089
Other 123 906 8 0.1358
African 422 10406 15 0.04055
Latino 1264 11574 84 0.1092
South Asian 1240 16512 54 0.0751
European (Finnish) 428 6612 15 0.06473
Total 17509 121388 1689 0.1442

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.