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X:152990759 A / C


Warning! This variant is only covered in 1750 individuals (adjusted allele number = 3500).
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
rs183021839
Allele Frequency
0.001143
Filtering AF
0.000261 (European (Non-Finnish))
Allele Count
4 / 3500
UCSC
X-152990759-A-C
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 11 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) 2 1358 0 0 0.001473
East Asian 0 121 0 0 0
Other 0 39 0 0 0
African 1 369 0 1 0.00271
Latino 1 53 0 0 0.01887
South Asian 0 1558 0 0 0
European (Finnish) 0 2 0 0 0
Total 4 3500 0 1 0.001143

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.