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X:153006141 T / A

Note: This variant is multiallelic! The other alt alleles are:

Warning! This variant is only covered in 40534 individuals (adjusted allele number = 81068).
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
rs79383557
Allele Frequency
0.0263
Filtering AF
0.0334 (East Asian)
Allele Count
2132 / 81068
UCSC
X-153006141-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 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) 1154 44205 0 1 0.02611
East Asian 228 6100 0 0 0.03738
Other 20 582 0 0 0.03436
African 251 7994 0 0 0.0314
Latino 314 8654 0 0 0.03628
South Asian 105 9441 0 0 0.01112
European (Finnish) 60 4092 0 0 0.01466
Total 2132 81068 0 1 0.0263

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.