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12:6440009 T / C


Filter Status
PASS
dbSNP
rs1800693
Allele Frequency
0.3621
Filtering AF
0.4005 (European (Non-Finnish))
Allele Count
43801 / 120958
UCSC
12-6440009-T-C
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 20 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) 26918 66536 5519 0.4046
East Asian 1270 8590 96 0.1478
Other 333 906 74 0.3675
African 3611 10360 647 0.3486
Latino 3855 11522 621 0.3346
South Asian 5002 16472 819 0.3037
European (Finnish) 2812 6572 594 0.4279
Total 43801 120958 8370 0.3621

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.