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

12:98928103 C / T


Filter Status
PASS
dbSNP
rs17028450
Allele Frequency
0.01508
Filtering AF
0.1387 (Latino)
Allele Count
1794 / 119000
UCSC
12-98928103-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 10 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) 50 65566 0 0.0007626
East Asian 50 8494 0 0.005887
Other 1 900 0 0.001111
African 17 9598 0 0.001771
Latino 1656 11460 140 0.1445
South Asian 4 16394 1 0.000244
European (Finnish) 16 6588 0 0.002429
Total 1794 119000 141 0.01508

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.