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12:48238757 A / G


Filter Status
PASS
dbSNP
rs731236
Allele Frequency
0.3338
Filtering AF
0.3948 (European (Non-Finnish))
Allele Count
40509 / 121340
UCSC
12-48238757-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 6 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) 26601 66704 5336 0.3988
East Asian 467 8636 9 0.05408
Other 304 908 55 0.3348
African 2906 10402 418 0.2794
Latino 2311 11572 243 0.1997
South Asian 5767 16512 1080 0.3493
European (Finnish) 2153 6606 364 0.3259
Total 40509 121340 7505 0.3338

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.