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1:247835950 T / C


Filter Status
PASS
dbSNP
rs1151640
Allele Frequency
0.4453
Filtering AF
0.6707 (Latino)
Allele Count
53928 / 121104
UCSC
1-247835950-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 3 transcripts in 3 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) 28922 66604 6300 0.4342
East Asian 5205 8624 1574 0.6035
Other 387 904 88 0.4281
African 1691 10400 139 0.1626
Latino 7843 11478 2749 0.6833
South Asian 7230 16498 1641 0.4382
European (Finnish) 2650 6596 545 0.4018
Total 53928 121104 13036 0.4453

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.