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X:153008483 G / A


Warning! This variant is only covered in 18313 individuals (adjusted allele number = 36626).
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
rs78993751
Allele Frequency
0.008355
Filtering AF
0.01087 (East Asian)
Allele Count
306 / 36626
UCSC
X-153008483-G-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 3 transcripts in 2 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 Number of Hemizygotes Allele Frequency
European (Non-Finnish) 159 18533 0 0 0.008579
East Asian 46 3260 0 0 0.01411
Other 0 269 0 0 0
African 33 4317 0 0 0.007644
Latino 43 3357 0 0 0.01281
South Asian 18 5877 0 0 0.003063
European (Finnish) 7 1013 0 0 0.00691
Total 306 36626 0 0 0.008355

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.