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12:53207628 G / A


Filter Status
PASS
dbSNP
rs2638525
Allele Frequency
0.1823
Filtering AF
0.4219 (African)
Allele Count
21419 / 117516
UCSC
12-53207628-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 7 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) 11429 64898 998 0.1761
East Asian 806 8416 47 0.09577
Other 152 872 10 0.1743
African 4134 9550 858 0.4329
Latino 1000 11362 55 0.08801
South Asian 2877 16434 272 0.1751
European (Finnish) 1021 5984 83 0.1706
Total 21419 117516 2323 0.1823

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.