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22:42276742 G / C

Warning! This variant is found in phase with 22-42276741-G-A in 24 individuals, altering its functional interpretation
.

Filter Status
PASS
dbSNP
rs2228314
Allele Frequency
0.3339
Filtering AF
0.679 (Latino)
Allele Count
40434 / 121106
UCSC
22-42276742-G-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 5 transcripts in 1 genes:

missense
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 Allele Frequency
European (Non-Finnish) 17252 66530 2240 0.2593
East Asian 1548 8628 151 0.1794
Other 282 906 48 0.3113
African 6048 10346 1785 0.5846
Latino 8004 11572 2874 0.6917
South Asian 5948 16510 1143 0.3603
European (Finnish) 1352 6614 145 0.2044
Total 40434 121106 8386 0.3339

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.