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X:153005536 GC / G


Warning! This variant is only covered in 42766 individuals (adjusted allele number = 85532).
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
rs4148037
Allele Frequency
0.007389
Allele Count
632 / 85532
UCSC
X-153005536-GC-G
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:

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) 11 47251 0 2 0.0002328
East Asian 599 6600 17 207 0.09076
Other 3 611 0 1 0.00491
African 11 8456 0 1 0.001301
Latino 1 9302 0 1 0.0001075
South Asian 7 8784 0 1 0.0007969
European (Finnish) 0 4528 0 0 0
Total 632 85532 17 213 0.007389

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.