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5:148206440 G / A


Filter Status
PASS
dbSNP
rs1042713
Allele Frequency
0.4204
Filtering AF
0.5349 (East Asian)
Allele Count
51009 / 121346
UCSC
5-148206440-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 1 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) 25418 66722 4908 0.381
East Asian 4729 8630 1287 0.548
Other 390 900 75 0.4333
African 5132 10404 1311 0.4933
Latino 4864 11572 1043 0.4203
South Asian 7530 16512 1793 0.456
European (Finnish) 2946 6606 660 0.446
Total 51009 121346 11077 0.4204

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.