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6:31324702 C / T


Warning! This variant is only covered in 46722 individuals (adjusted allele number = 93444).
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
rs1050486
Allele Frequency
0.4958
Filtering AF
0.6052 (South Asian)
Allele Count
46325 / 93444
UCSC
6-31324702-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 8 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) 22272 49050 4686 0.4541
East Asian 4057 7194 868 0.5639
Other 349 694 84 0.5029
African 4210 7358 1136 0.5722
Latino 4379 10048 737 0.4358
South Asian 8677 14086 2391 0.616
European (Finnish) 2381 5014 510 0.4749
Total 46325 93444 10412 0.4958

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.