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12:40657700 C / G


Filter Status
PASS
dbSNP
rs7308720
Allele Frequency
0.08607
Filtering AF
0.1526 (Latino)
Allele Count
10413 / 120988
UCSC
12-40657700-C-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 3 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) 5073 66486 225 0.0763
East Asian 933 8644 49 0.1079
Other 64 906 2 0.07064
African 1458 10348 96 0.1409
Latino 1827 11516 151 0.1586
South Asian 664 16492 21 0.04026
European (Finnish) 394 6596 15 0.05973
Total 10413 120988 559 0.08607

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.