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X:70444261 T / G


Warning! This variant is only covered in 36349 individuals (adjusted allele number = 72699).
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
rs104894825
Allele Frequency
0.001059
Filtering AF
0.00864 (African)
Allele Count
77 / 72699
UCSC
X-70444261-T-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 4 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) 2 39564 0 1 5.055e-05
East Asian 0 5885 0 0 0
Other 0 500 0 0 0
African 74 6995 0 7 0.01058
Latino 1 8216 0 1 0.0001217
South Asian 0 8265 0 0 0
European (Finnish) 0 3274 0 0 0
Total 77 72699 0 9 0.001059

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.