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1:230845794 A / G


Filter Status
PASS
dbSNP
rs699
Allele Frequency
0.5484
Filtering AF
0.8299 (African)
Allele Count
66516 / 121284
UCSC
1-230845794-A-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 2 transcripts in 2 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) 28281 66648 5968 0.4243
East Asian 7235 8636 3018 0.8378
Other 471 908 128 0.5187
African 8783 10398 3717 0.8447
Latino 8582 11572 3240 0.7416
South Asian 10285 16512 3241 0.6229
European (Finnish) 2879 6610 625 0.4356
Total 66516 121284 19937 0.5484

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.