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6:31236808 C / G


Warning! This variant is only covered in 27967 individuals (adjusted allele number = 55934).
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
rs112485283
Allele Frequency
0.1057
Filtering AF
0.2749 (East Asian)
Allele Count
5912 / 55934
UCSC
6-31236808-C-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 9 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) 2428 29784 80 0.08152
East Asian 1281 4448 160 0.288
Other 42 456 2 0.09211
African 342 3974 10 0.08606
Latino 664 3892 36 0.1706
South Asian 705 9610 33 0.07336
European (Finnish) 450 3770 21 0.1194
Total 5912 55934 342 0.1057

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.