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18:21140432 T / C

Warning! This variant is found in phase with 18-21140433-G-A in 2 individuals, altering its functional interpretation
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Filter Status
PASS
dbSNP
rs1805081
Allele Frequency
0.3287
Filtering AF
0.3925 (European (Non-Finnish))
Allele Count
39592 / 120438
UCSC
18-21140432-T-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 1 genes:

missense
non coding transcript exon
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) 26270 66254 5277 0.3965
East Asian 2048 8590 224 0.2384
Other 318 902 57 0.3525
African 741 10192 37 0.0727
Latino 2668 11490 312 0.2322
South Asian 4514 16426 658 0.2748
European (Finnish) 3033 6584 714 0.4607
Total 39592 120438 7279 0.3287

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.