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8:63951312 A / G


Warning! This variant is only covered in 34323 individuals (adjusted allele number = 68646).
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
rs1800909
Allele Frequency
0.3045
Filtering AF
0.3233 (European (Non-Finnish))
Allele Count
20904 / 68646
UCSC
8-63951312-A-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 4 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) 12574 38318 1532 0.3281
East Asian 1239 5280 107 0.2347
Other 147 430 21 0.3419
African 1080 4988 93 0.2165
Latino 1481 5908 125 0.2507
South Asian 3692 11608 546 0.3181
European (Finnish) 691 2114 68 0.3269
Total 20904 68646 2492 0.3045

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.