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5:148206473 G / C


Filter Status
PASS
dbSNP
rs1042714
Allele Frequency
0.6834
Filtering AF
0.8935 (East Asian)
Allele Count
82949 / 121380
UCSC
5-148206473-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 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) 39031 66720 11537 0.585
East Asian 7876 8652 3576 0.9103
Other 626 908 211 0.6894
African 8557 10406 3523 0.8223
Latino 9652 11570 4067 0.8342
South Asian 13057 16512 5186 0.7908
European (Finnish) 4150 6612 1284 0.6276
Total 82949 121380 29384 0.6834

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.