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12:6643991 C / G


Filter Status
PASS
dbSNP
rs1136666
Allele Frequency
0.2395
Filtering AF
0.2786 (African)
Allele Count
28752 / 120034
UCSC
12-6643991-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 26 transcripts in 5 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) 16680 65826 2198 0.2534
East Asian 1837 8560 194 0.2146
Other 171 888 23 0.1926
African 2939 10230 416 0.2873
Latino 2648 11488 326 0.2305
South Asian 2791 16502 276 0.1691
European (Finnish) 1686 6540 221 0.2578
Total 28752 120034 3654 0.2395

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.