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12:6954875 C / T


Filter Status
PASS
dbSNP
rs5443
Allele Frequency
0.3598
Filtering AF
0.7288 (African)
Allele Count
43631 / 121276
UCSC
12-6954875-C-T
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 21 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) 20218 66668 3097 0.3033
East Asian 4523 8606 1158 0.5256
Other 287 906 45 0.3168
African 7724 10400 2875 0.7427
Latino 3968 11570 688 0.343
South Asian 5246 16512 898 0.3177
European (Finnish) 1665 6614 200 0.2517
Total 43631 121276 8961 0.3598

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.