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X:43595428 A / G


Warning! This variant is only covered in 33786 individuals (adjusted allele number = 67573).
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
rs2235186
Allele Frequency
0.6768
Filtering AF
0.8401 (African)
Allele Count
45735 / 67573
UCSC
X-43595428-A-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 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) 25921 35861 6667 6910 0.7228
East Asian 2375 5139 421 495 0.4622
Other 339 514 71 119 0.6595
African 6706 7823 2357 1164 0.8572
Latino 5118 7510 1432 794 0.6815
South Asian 3097 7358 277 1767 0.4209
European (Finnish) 2179 3368 449 759 0.647
Total 45735 67573 11674 12008 0.6768

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.