Interested in working on the development of this resource? Apply here.

X:43591036 G / T

Warning! This variant is found in phase with X-43591035-G-A in 1 individuals, altering its functional interpretation
.

Warning! This variant is only covered in 43717 individuals (adjusted allele number = 87434).
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
rs6323
Allele Frequency
0.6529
Filtering AF
0.834 (African)
Allele Count
57088 / 87434
UCSC
X-43591036-G-T
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) 33523 47838 7177 13077 0.7008
East Asian 2895 6563 461 887 0.4411
Other 399 628 74 171 0.6354
African 7234 8507 2388 1607 0.8504
Latino 6204 9284 1568 1517 0.6682
South Asian 4024 10106 302 2598 0.3982
European (Finnish) 2809 4508 474 1315 0.6231
Total 57088 87434 12444 21172 0.6529

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.