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8:18258103 G / A


Filter Status
PASS
dbSNP
rs1799930
Allele Frequency
0.2773
Filtering AF
0.3527 (South Asian)
Allele Count
33553 / 121012
UCSC
8-18258103-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 2 transcripts in 1 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) 19303 66656 2841 0.2896
East Asian 2162 8644 274 0.2501
Other 240 906 35 0.2649
African 2652 10160 353 0.261
Latino 1670 11532 123 0.1448
South Asian 5946 16502 1073 0.3603
European (Finnish) 1580 6612 194 0.239
Total 33553 121012 4893 0.2773

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.