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12:76740029 T / C


Filter Status
PASS
dbSNP
rs141521925
Allele Frequency
0.0005223
Filtering AF
0.004432 (African)
Allele Count
63 / 120630
UCSC
12-76740029-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 1 transcripts in 1 genes:

missense
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) 2 66506 0 3.007e-05
East Asian 0 8634 0 0
Other 0 900 0 0
African 58 10394 0 0.00558
Latino 3 11568 0 0.0002593
South Asian 0 16016 0 0
European (Finnish) 0 6612 0 0
Total 63 120630 0 0.0005223

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.