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13:48619855 C / T


Filter Status
PASS
dbSNP
rs116855232
Allele Frequency
0.02785
Filtering AF
0.0987 (East Asian)
Allele Count
3377 / 121238
UCSC
13-48619855-C-T
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) 307 66698 2 0.004603
East Asian 903 8654 45 0.1043
Other 32 908 3 0.03524
African 7 10288 0 0.0006804
Latino 823 11572 37 0.07112
South Asian 1156 16504 45 0.07004
European (Finnish) 149 6614 6 0.02253
Total 3377 121238 138 0.02785

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.