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X:135730555 T / C


Warning! This variant is only covered in 43741 individuals (adjusted allele number = 87482).
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
rs1126535
Allele Frequency
0.2295
Filtering AF
0.5189 (Latino)
Allele Count
20080 / 87482
UCSC
X-135730555-T-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 2 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) 8813 47794 505 3353 0.1844
East Asian 565 6617 14 190 0.08539
Other 130 633 14 49 0.2054
African 1302 8507 78 318 0.1531
Latino 4936 9291 1074 1181 0.5313
South Asian 3432 10117 256 2103 0.3392
European (Finnish) 902 4523 48 420 0.1994
Total 20080 87482 1989 7614 0.2295

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.