Interested in working on the development of this resource? Apply here.

12:80014907 A / T

Note: This variant is multiallelic! The other alt alleles are:

Filter Status
PASS
dbSNP
rs78187003
Allele Frequency
0.6951
Filtering AF
0.7974 (European (Non-Finnish))
Allele Count
84376 / 121390
UCSC
12-80014907-A-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 4 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) 53587 66728 21530 0.8031
East Asian 4110 8652 997 0.475
Other 625 908 212 0.6883
African 2537 10404 333 0.2438
Latino 8351 11578 2995 0.7213
South Asian 9726 16506 2933 0.5892
European (Finnish) 5440 6614 2231 0.8225
Total 84376 121390 31231 0.6951

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.