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12:125284748 A / G


Filter Status
PASS
dbSNP
rs5888
Allele Frequency
0.5852
Filtering AF
0.7978 (African)
Allele Count
70966 / 121264
UCSC
12-125284748-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 10 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) 34789 66686 9066 0.5217
East Asian 6436 8622 2393 0.7465
Other 539 904 166 0.5962
African 8441 10392 3429 0.8123
Latino 8019 11562 2785 0.6936
South Asian 8766 16512 2343 0.5309
European (Finnish) 3976 6586 1179 0.6037
Total 70966 121264 21361 0.5852

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.