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X:107159223 CT / C

Note: This variant is multiallelic! The other alt alleles are:

Warning! This variant is only covered in 43811 individuals (adjusted allele number = 87623).
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
Not found in dbSNP
Allele Frequency
0.002305
Filtering AF
0.002916 (European (Non-Finnish))
Allele Count
202 / 87623
UCSC
X-107159223-CT-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 4 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) 160 47922 0 58 0.003339
East Asian 0 6630 0 0 0
Other 1 633 0 0 0.00158
African 1 8499 0 0 0.0001177
Latino 14 9308 0 3 0.001504
South Asian 0 10109 0 0 0
European (Finnish) 26 4522 0 8 0.00575
Total 202 87623 0 69 0.002305

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.