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21:47423389 G / A


Filter Status
PASS
dbSNP
rs1053312
Allele Frequency
0.2888
Filtering AF
0.4004 (African)
Allele Count
32954 / 114096
UCSC
21-47423389-G-A
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
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) 18858 62154 2844 0.3034
East Asian 1286 8190 91 0.157
Other 219 848 25 0.2583
African 3732 9072 771 0.4114
Latino 3393 11212 530 0.3026
South Asian 3733 16326 460 0.2287
European (Finnish) 1733 6294 248 0.2753
Total 32954 114096 4969 0.2888

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.