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12:88477713 T / A


Warning! This variant is only covered in 27910 individuals (adjusted allele number = 55820).
This means that the site is covered in fewer than 80% of the individuals in ExAC, which may indicate a low-quality site.


Filter Status
PASS
dbSNP
rs137852834
Allele Frequency
0.0001075
Filtering AF
7e-05 (European (Non-Finnish))
Allele Count
6 / 55820
UCSC
12-88477713-T-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 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) 5 28054 0 0.0001782
East Asian 0 4308 0 0
Other 0 452 0 0
African 0 5982 0 0
Latino 1 3192 0 0.0003133
South Asian 0 10190 0 0
European (Finnish) 0 3642 0 0
Total 6 55820 0 0.0001075

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.