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X:152991157 T / A

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

Warning! This variant is only covered in 38042 individuals (adjusted allele number = 76084).
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
Not found in dbSNP
Allele Frequency
0.0002103
Allele Count
16 / 76084
UCSC
X-152991157-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 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) 0 41259 0 0 0
East Asian 16 6067 0 6 0.002637
Other 0 523 0 0 0
African 0 7510 0 0 0
Latino 0 8588 0 0 0
South Asian 0 8987 0 0 0
European (Finnish) 0 3150 0 0 0
Total 16 76084 0 6 0.0002103

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.