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12:52448157 G / A


Filter Status
PASS
dbSNP
rs2701124
Allele Frequency
0.1021
Filtering AF
0.2859 (African)
Allele Count
12302 / 120462
UCSC
12-52448157-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 23 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) 5483 66254 233 0.08276
East Asian 727 8632 35 0.08422
Other 89 896 4 0.09933
African 3043 10328 408 0.2946
Latino 556 11550 21 0.04814
South Asian 1808 16194 107 0.1116
European (Finnish) 596 6608 28 0.09019
Total 12302 120462 836 0.1021

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.