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X:114863593 T / A


Warning! This variant is only covered in 43746 individuals (adjusted allele number = 87493).
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
rs140121121
Allele Frequency
0.01508
Filtering AF
0.01925 (European (Non-Finnish))
Allele Count
1319 / 87493
UCSC
X-114863593-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 8 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 Number of Hemizygotes Allele Frequency
European (Non-Finnish) 973 47908 13 358 0.02031
East Asian 0 6634 0 0 0
Other 8 631 0 7 0.01268
African 9 8512 0 2 0.001057
Latino 20 9315 0 6 0.002147
South Asian 60 9965 1 40 0.006021
European (Finnish) 249 4528 3 127 0.05499
Total 1319 87493 17 540 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.